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nsv7095246

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:222
  • Description:NC_000001.10:g.(?_155261527)_(155261748_?)del AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 128 SVs from 25 studies. See in: genome view    
Remapped(Score: Perfect):155,291,736-155,291,957Question Mark
Overlapping variant regions from other studies: 35 SVs from 11 studies. See in: genome view    
Remapped(Score: Perfect):96,759-96,980Question Mark
Overlapping variant regions from other studies: 133 SVs from 26 studies. See in: genome view    
Submitted genomic155,261,527-155,261,748Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv7095246RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000001.11Chr1155,291,736155,291,957
nsv7095246RemappedPerfectGRCh38.p12ALT_REF_LOCI_1Second PassNW_003315906.1Chr1|NW_00
3315906.1
96,75996,980
nsv7095246Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000001.10Chr1155,261,527155,261,748

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv18788950deletionMultipleMultiplenot providedPathogenicClinVarRCV003110968.2, VCV002422834.2

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv18788950RemappedPerfectNW_003315906.1:g.(
?_96759)_(96980_?)
del
GRCh38.p12Second PassNW_003315906.1Chr1|NW_00
3315906.1
96,75996,980
nssv18788950RemappedPerfectNC_000001.11:g.(?_
155291736)_(155291
957_?)del
GRCh38.p12First PassNC_000001.11Chr1155,291,736155,291,957
nssv18788950Submitted genomicNC_000001.10:g.(?_
155261527)_(155261
748_?)del
GRCh37 (hg19)NC_000001.10Chr1155,261,527155,261,748

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv18788950GRCh37: NC_000001.10:g.(?_155261527)_(155261748_?)deldeletiongermlinenot providedPathogenicClinVarRCV003110968.2, VCV002422834.2

No genotype data were submitted for this variant

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