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nsv6314218

  • Variant Calls:7
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1
  • Description:46;X;t(X;8;2)(Xpter>Xq21.2::2q14.2>2qter;8qter
    >8p11.1::Xq21.2>Xqter;2pter>2q14.2::8p11.1>8pter)dn AND multiple conditions
  • Publication(s):Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 95 SVs from 20 studies. See in: genome view    
Remapped(Score: Perfect):119,076,292-119,076,292Question Mark
Overlapping variant regions from other studies: 95 SVs from 20 studies. See in: genome view    
Remapped(Score: Perfect):119,076,293-119,076,293Question Mark
Overlapping variant regions from other studies: 96 SVs from 20 studies. See in: genome view    
Remapped(Score: Perfect):119,145,334-119,145,334Question Mark
Overlapping variant regions from other studies: 96 SVs from 20 studies. See in: genome view    
Remapped(Score: Perfect):119,145,359-119,145,359Question Mark
Overlapping variant regions from other studies: 199 SVs from 37 studies. See in: genome view    
Remapped(Score: Perfect):43,363,723-43,363,723Question Mark
Overlapping variant regions from other studies: 199 SVs from 37 studies. See in: genome view    
Remapped(Score: Perfect):43,363,730-43,363,730Question Mark
Overlapping variant regions from other studies: 102 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):112,541,251-112,541,251Question Mark
Overlapping variant regions from other studies: 102 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):112,541,297-112,541,297Question Mark
Overlapping variant regions from other studies: 71 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):153,677,620-153,677,620Question Mark
Overlapping variant regions from other studies: 74 SVs from 21 studies. See in: genome view    
Remapped(Score: Perfect):153,677,880-153,677,880Question Mark
Overlapping variant regions from other studies: 106 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):86,756,602-86,756,602Question Mark
Overlapping variant regions from other studies: 106 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):86,756,602-86,756,602Question Mark
Overlapping variant regions from other studies: 120 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):88,015,917-88,015,917Question Mark
Overlapping variant regions from other studies: 120 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):88,015,918-88,015,918Question Mark
Overlapping variant regions from other studies: 95 SVs from 20 studies. See in: genome view    
Submitted genomic119,833,868-119,833,868Question Mark
Overlapping variant regions from other studies: 95 SVs from 20 studies. See in: genome view    
Submitted genomic119,833,869-119,833,869Question Mark
Overlapping variant regions from other studies: 96 SVs from 20 studies. See in: genome view    
Submitted genomic119,902,910-119,902,910Question Mark
Overlapping variant regions from other studies: 96 SVs from 20 studies. See in: genome view    
Submitted genomic119,902,935-119,902,935Question Mark
Overlapping variant regions from other studies: 199 SVs from 37 studies. See in: genome view    
Submitted genomic43,218,866-43,218,866Question Mark
Overlapping variant regions from other studies: 199 SVs from 37 studies. See in: genome view    
Submitted genomic43,218,873-43,218,873Question Mark
Overlapping variant regions from other studies: 102 SVs from 24 studies. See in: genome view    
Submitted genomic111,784,479-111,784,479Question Mark
Overlapping variant regions from other studies: 102 SVs from 24 studies. See in: genome view    
Submitted genomic111,784,525-111,784,525Question Mark
Overlapping variant regions from other studies: 71 SVs from 18 studies. See in: genome view    
Submitted genomic152,943,075-152,943,075Question Mark
Overlapping variant regions from other studies: 74 SVs from 21 studies. See in: genome view    
Submitted genomic152,943,335-152,943,335Question Mark
Overlapping variant regions from other studies: 106 SVs from 24 studies. See in: genome view    
Submitted genomic86,011,605-86,011,605Question Mark
Overlapping variant regions from other studies: 106 SVs from 24 studies. See in: genome view    
Submitted genomic86,011,605-86,011,605Question Mark
Overlapping variant regions from other studies: 120 SVs from 23 studies. See in: genome view    
Submitted genomic87,270,917-87,270,917Question Mark
Overlapping variant regions from other studies: 120 SVs from 23 studies. See in: genome view    
Submitted genomic87,270,918-87,270,918Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv6314218RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr2119,076,292119,076,292+
nsv6314218RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr2119,076,293119,076,293-
nsv6314218RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr2119,145,334119,145,334-
nsv6314218RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr2119,145,359119,145,359-
nsv6314218RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000008.11Chr843,363,72343,363,723-
nsv6314218RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000008.11Chr843,363,73043,363,730+
nsv6314218RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000023.11ChrX112,541,251112,541,251-
nsv6314218RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000023.11ChrX112,541,297112,541,297-
nsv6314218RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000023.11ChrX153,677,620153,677,620-
nsv6314218RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000023.11ChrX153,677,880153,677,880+
nsv6314218RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000023.11ChrX86,756,60286,756,602-
nsv6314218RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000023.11ChrX86,756,60286,756,602+
nsv6314218RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000023.11ChrX88,015,91788,015,917-
nsv6314218RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000023.11ChrX88,015,91888,015,918+
nsv6314218Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr2119,833,868119,833,868+
nsv6314218Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr2119,833,869119,833,869-
nsv6314218Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr2119,902,910119,902,910-
nsv6314218Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr2119,902,935119,902,935-
nsv6314218Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000008.10Chr843,218,86643,218,866-
nsv6314218Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000008.10Chr843,218,87343,218,873+
nsv6314218Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX111,784,479111,784,479-
nsv6314218Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX111,784,525111,784,525-
nsv6314218Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX152,943,075152,943,075-
nsv6314218Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX152,943,335152,943,335+
nsv6314218Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX86,011,60586,011,605+
nsv6314218Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX86,011,60586,011,605-
nsv6314218Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX87,270,91787,270,917-
nsv6314218Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX87,270,91887,270,918+

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975982interchromosomal translocationMultipleMultiple3-4 toe syndactyly; 3-4 toe syndactyly; Abnormal sex determination; Abnormal sex determination; Aplasia of the ovary; Aplasia of the ovary; Clinodactyly of the 5th toe; Clinodactyly of the 5th toe; EEG abnormality; EEG abnormality; Hypoplasia of the uterus; Primary amenorrhea; Primary amenorrhea; Uterine hypoplasiaUncertain significanceClinVarRCV000258768.1, VCV000267801.1
nssv17975987interchromosomal translocationMultipleMultiple3-4 toe syndactyly; 3-4 toe syndactyly; Abnormal sex determination; Abnormal sex determination; Aplasia of the ovary; Aplasia of the ovary; Clinodactyly of the 5th toe; Clinodactyly of the 5th toe; EEG abnormality; EEG abnormality; Hypoplasia of the uterus; Primary amenorrhea; Primary amenorrhea; Uterine hypoplasiaUncertain significanceClinVarRCV000258768.1, VCV000267801.1
nssv17975986interchromosomal translocationMultipleMultiple3-4 toe syndactyly; 3-4 toe syndactyly; Abnormal sex determination; Abnormal sex determination; Aplasia of the ovary; Aplasia of the ovary; Clinodactyly of the 5th toe; Clinodactyly of the 5th toe; EEG abnormality; EEG abnormality; Hypoplasia of the uterus; Primary amenorrhea; Primary amenorrhea; Uterine hypoplasiaUncertain significanceClinVarRCV000258768.1, VCV000267801.1
nssv17975988interchromosomal translocationMultipleMultiple3-4 toe syndactyly; 3-4 toe syndactyly; Abnormal sex determination; Abnormal sex determination; Aplasia of the ovary; Aplasia of the ovary; Clinodactyly of the 5th toe; Clinodactyly of the 5th toe; EEG abnormality; EEG abnormality; Hypoplasia of the uterus; Primary amenorrhea; Primary amenorrhea; Uterine hypoplasiaUncertain significanceClinVarRCV000258768.1, VCV000267801.1
nssv17975985intrachromosomal translocationMultipleMultiple3-4 toe syndactyly; 3-4 toe syndactyly; Abnormal sex determination; Abnormal sex determination; Aplasia of the ovary; Aplasia of the ovary; Clinodactyly of the 5th toe; Clinodactyly of the 5th toe; EEG abnormality; EEG abnormality; Hypoplasia of the uterus; Primary amenorrhea; Primary amenorrhea; Uterine hypoplasiaUncertain significanceClinVarRCV000258768.1, VCV000267801.1
nssv17975984intrachromosomal translocationMultipleMultiple3-4 toe syndactyly; 3-4 toe syndactyly; Abnormal sex determination; Abnormal sex determination; Aplasia of the ovary; Aplasia of the ovary; Clinodactyly of the 5th toe; Clinodactyly of the 5th toe; EEG abnormality; EEG abnormality; Hypoplasia of the uterus; Primary amenorrhea; Primary amenorrhea; Uterine hypoplasiaUncertain significanceClinVarRCV000258768.1, VCV000267801.1
nssv17975983intrachromosomal translocationMultipleMultiple3-4 toe syndactyly; 3-4 toe syndactyly; Abnormal sex determination; Abnormal sex determination; Aplasia of the ovary; Aplasia of the ovary; Clinodactyly of the 5th toe; Clinodactyly of the 5th toe; EEG abnormality; EEG abnormality; Hypoplasia of the uterus; Primary amenorrhea; Primary amenorrhea; Uterine hypoplasiaUncertain significanceClinVarRCV000258768.1, VCV000267801.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreAssemblyReciprocitySequence IDChrStartStopstrand
nssv17975982RemappedPerfectGRCh38.p12First PassNC_000002.12Chr2119,076,292119,076,292+
nssv17975987RemappedPerfectGRCh38.p12First PassNC_000002.12Chr2119,076,293119,076,293-
nssv17975986RemappedPerfectGRCh38.p12First PassNC_000002.12Chr2119,145,334119,145,334-
nssv17975988RemappedPerfectGRCh38.p12First PassNC_000002.12Chr2119,145,359119,145,359-
nssv17975982RemappedPerfectGRCh38.p12First PassNC_000008.11Chr843,363,72343,363,723-
nssv17975987RemappedPerfectGRCh38.p12First PassNC_000008.11Chr843,363,73043,363,730+
nssv17975985RemappedPerfectGRCh38.p12First PassNC_000023.11ChrX86,756,60286,756,602+
nssv17975988RemappedPerfectGRCh38.p12First PassNC_000023.11ChrX86,756,60286,756,602-
nssv17975984RemappedPerfectGRCh38.p12First PassNC_000023.11ChrX88,015,91788,015,917-
nssv17975986RemappedPerfectGRCh38.p12First PassNC_000023.11ChrX88,015,91888,015,918+
nssv17975983RemappedPerfectGRCh38.p12First PassNC_000023.11ChrX112,541,251112,541,251-
nssv17975985RemappedPerfectGRCh38.p12First PassNC_000023.11ChrX112,541,297112,541,297-
nssv17975984RemappedPerfectGRCh38.p12First PassNC_000023.11ChrX153,677,620153,677,620-
nssv17975983RemappedPerfectGRCh38.p12First PassNC_000023.11ChrX153,677,880153,677,880+
nssv17975982Submitted genomicGRCh37 (hg19)NC_000002.11Chr2119,833,868119,833,868+
nssv17975987Submitted genomicGRCh37 (hg19)NC_000002.11Chr2119,833,869119,833,869-
nssv17975986Submitted genomicGRCh37 (hg19)NC_000002.11Chr2119,902,910119,902,910-
nssv17975988Submitted genomicGRCh37 (hg19)NC_000002.11Chr2119,902,935119,902,935-
nssv17975982Submitted genomicGRCh37 (hg19)NC_000008.10Chr843,218,86643,218,866-
nssv17975987Submitted genomicGRCh37 (hg19)NC_000008.10Chr843,218,87343,218,873+
nssv17975985Submitted genomicGRCh37 (hg19)NC_000023.10ChrX86,011,60586,011,605+
nssv17975988Submitted genomicGRCh37 (hg19)NC_000023.10ChrX86,011,60586,011,605-
nssv17975984Submitted genomicGRCh37 (hg19)NC_000023.10ChrX87,270,91787,270,917-
nssv17975986Submitted genomicGRCh37 (hg19)NC_000023.10ChrX87,270,91887,270,918+
nssv17975983Submitted genomicGRCh37 (hg19)NC_000023.10ChrX111,784,479111,784,479-
nssv17975985Submitted genomicGRCh37 (hg19)NC_000023.10ChrX111,784,525111,784,525-
nssv17975984Submitted genomicGRCh37 (hg19)NC_000023.10ChrX152,943,075152,943,075-
nssv17975983Submitted genomicGRCh37 (hg19)NC_000023.10ChrX152,943,335152,943,335+

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975982interchromosomal translocationde novo3-4 toe syndactyly; 3-4 toe syndactyly; Abnormal sex determination; Abnormal sex determination; Aplasia of the ovary; Aplasia of the ovary; Clinodactyly of the 5th toe; Clinodactyly of the 5th toe; EEG abnormality; EEG abnormality; Hypoplasia of the uterus; Primary amenorrhea; Primary amenorrhea; Uterine hypoplasiaUncertain significanceClinVarRCV000258768.1, VCV000267801.1
nssv17975987interchromosomal translocationde novo3-4 toe syndactyly; 3-4 toe syndactyly; Abnormal sex determination; Abnormal sex determination; Aplasia of the ovary; Aplasia of the ovary; Clinodactyly of the 5th toe; Clinodactyly of the 5th toe; EEG abnormality; EEG abnormality; Hypoplasia of the uterus; Primary amenorrhea; Primary amenorrhea; Uterine hypoplasiaUncertain significanceClinVarRCV000258768.1, VCV000267801.1
nssv17975986interchromosomal translocationde novo3-4 toe syndactyly; 3-4 toe syndactyly; Abnormal sex determination; Abnormal sex determination; Aplasia of the ovary; Aplasia of the ovary; Clinodactyly of the 5th toe; Clinodactyly of the 5th toe; EEG abnormality; EEG abnormality; Hypoplasia of the uterus; Primary amenorrhea; Primary amenorrhea; Uterine hypoplasiaUncertain significanceClinVarRCV000258768.1, VCV000267801.1
nssv17975988interchromosomal translocationde novo3-4 toe syndactyly; 3-4 toe syndactyly; Abnormal sex determination; Abnormal sex determination; Aplasia of the ovary; Aplasia of the ovary; Clinodactyly of the 5th toe; Clinodactyly of the 5th toe; EEG abnormality; EEG abnormality; Hypoplasia of the uterus; Primary amenorrhea; Primary amenorrhea; Uterine hypoplasiaUncertain significanceClinVarRCV000258768.1, VCV000267801.1
nssv17975985intrachromosomal translocationde novo3-4 toe syndactyly; 3-4 toe syndactyly; Abnormal sex determination; Abnormal sex determination; Aplasia of the ovary; Aplasia of the ovary; Clinodactyly of the 5th toe; Clinodactyly of the 5th toe; EEG abnormality; EEG abnormality; Hypoplasia of the uterus; Primary amenorrhea; Primary amenorrhea; Uterine hypoplasiaUncertain significanceClinVarRCV000258768.1, VCV000267801.1
nssv17975984intrachromosomal translocationde novo3-4 toe syndactyly; 3-4 toe syndactyly; Abnormal sex determination; Abnormal sex determination; Aplasia of the ovary; Aplasia of the ovary; Clinodactyly of the 5th toe; Clinodactyly of the 5th toe; EEG abnormality; EEG abnormality; Hypoplasia of the uterus; Primary amenorrhea; Primary amenorrhea; Uterine hypoplasiaUncertain significanceClinVarRCV000258768.1, VCV000267801.1
nssv17975983intrachromosomal translocationde novo3-4 toe syndactyly; 3-4 toe syndactyly; Abnormal sex determination; Abnormal sex determination; Aplasia of the ovary; Aplasia of the ovary; Clinodactyly of the 5th toe; Clinodactyly of the 5th toe; EEG abnormality; EEG abnormality; Hypoplasia of the uterus; Primary amenorrhea; Primary amenorrhea; Uterine hypoplasiaUncertain significanceClinVarRCV000258768.1, VCV000267801.1

No genotype data were submitted for this variant

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