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nsv6314253

  • Variant Calls:2
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1
  • Description:46;XY;inv(9)(p21.2p22.1) AND Encephalopathy
  • Publication(s):Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 120 SVs from 22 studies. See in: genome view    
Remapped(Score: Perfect):18,469,960-18,469,960Question Mark
Overlapping variant regions from other studies: 120 SVs from 22 studies. See in: genome view    
Remapped(Score: Perfect):18,469,975-18,469,975Question Mark
Overlapping variant regions from other studies: 104 SVs from 25 studies. See in: genome view    
Remapped(Score: Perfect):26,866,235-26,866,235Question Mark
Overlapping variant regions from other studies: 103 SVs from 25 studies. See in: genome view    
Remapped(Score: Perfect):26,872,458-26,872,458Question Mark
Overlapping variant regions from other studies: 126 SVs from 22 studies. See in: genome view    
Submitted genomic18,469,958-18,469,958Question Mark
Overlapping variant regions from other studies: 126 SVs from 22 studies. See in: genome view    
Submitted genomic18,469,973-18,469,973Question Mark
Overlapping variant regions from other studies: 110 SVs from 26 studies. See in: genome view    
Submitted genomic26,866,233-26,866,233Question Mark
Overlapping variant regions from other studies: 109 SVs from 26 studies. See in: genome view    
Submitted genomic26,872,456-26,872,456Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv6314253RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000009.12Chr918,469,96018,469,960+
nsv6314253RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000009.12Chr918,469,97518,469,975-
nsv6314253RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000009.12Chr926,866,23526,866,235-
nsv6314253RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000009.12Chr926,872,45826,872,458+
nsv6314253Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000009.11Chr918,469,95818,469,958+
nsv6314253Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000009.11Chr918,469,97318,469,973-
nsv6314253Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000009.11Chr926,866,23326,866,233-
nsv6314253Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000009.11Chr926,872,45626,872,456+

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975304inversionMultipleMultipleEncephalopathy; EncephalopathyUncertain significanceClinVarRCV000258551.1, VCV000267985.1
nssv17975305inversionMultipleMultipleEncephalopathy; EncephalopathyUncertain significanceClinVarRCV000258551.1, VCV000267985.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
nssv17975304RemappedPerfectNC_000009.12:g.268
66235inv525NC_0000
09.12:g.18469960in
v525		GRCh38.p12First PassNC_000009.12Chr918,469,96018,469,960
nssv17975305RemappedPerfectNC_000009.12:g.184
69975inv619NC_0000
09.12:g.26872458in
v619		GRCh38.p12First PassNC_000009.12Chr918,469,97518,469,975
nssv17975304RemappedPerfectNC_000009.12:g.268
66235inv525NC_0000
09.12:g.18469960in
v525		GRCh38.p12First PassNC_000009.12Chr926,866,23526,866,235
nssv17975305RemappedPerfectNC_000009.12:g.184
69975inv619NC_0000
09.12:g.26872458in
v619		GRCh38.p12First PassNC_000009.12Chr926,872,45826,872,458
nssv17975304Submitted genomicNC_000009.11:g.184
69958inv525NC_0000
09.11:g.26866233in
v525		GRCh37 (hg19)NC_000009.11Chr918,469,95818,469,958
nssv17975305Submitted genomicNC_000009.11:g.268
72456inv619NC_0000
09.11:g.18469973in
v619		GRCh37 (hg19)NC_000009.11Chr918,469,97318,469,973
nssv17975304Submitted genomicNC_000009.11:g.184
69958inv525NC_0000
09.11:g.26866233in
v525		GRCh37 (hg19)NC_000009.11Chr926,866,23326,866,233
nssv17975305Submitted genomicNC_000009.11:g.268
72456inv619NC_0000
09.11:g.18469973in
v619		GRCh37 (hg19)NC_000009.11Chr926,872,45626,872,456

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975304GRCh37: NC_000009.11:g.18469958inv525NC_000009.11:g.26866233inv525inversionunknownEncephalopathy; EncephalopathyUncertain significanceClinVarRCV000258551.1, VCV000267985.1
nssv17975305GRCh37: NC_000009.11:g.26872456inv619NC_000009.11:g.18469973inv619inversionunknownEncephalopathy; EncephalopathyUncertain significanceClinVarRCV000258551.1, VCV000267985.1

No genotype data were submitted for this variant

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