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nsv4350159

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:3,198,806

Genome View

Select assembly:
Overlapping variant regions from other studies: 11218 SVs from 121 studies. See in: genome view    
Remapped(Score: Good):10,183,610-13,382,415Question Mark
Overlapping variant regions from other studies: 11263 SVs from 121 studies. See in: genome view    
Submitted genomic10,336,209-13,535,349Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv4350159RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr1210,183,61013,382,415
nsv4350159Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000012.11Chr1210,336,20913,535,349

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv15605815copy number lossMultipleMultipleMULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4; Multiple endocrine neoplasia, type 4; See individual phenotypes in OMIM allelic variantsPathogenicClinVarRCV000767604.1, VCV000625596.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15605815RemappedGoodNC_000012.12:g.(?_
10183610)_(1338241
5_?)del
GRCh38.p12First PassNC_000012.12Chr1210,183,61013,382,415
nssv15605815Submitted genomicNC_000012.11:g.(?_
10336209)_(1353534
9_?)del
GRCh37 (hg19)NC_000012.11Chr1210,336,20913,535,349

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv15605815GRCh37: NC_000012.11:g.(?_10336209)_(13535349_?)delcopy number lossgermlineMULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4; Multiple endocrine neoplasia, type 4; See individual phenotypes in OMIM allelic variantsPathogenicClinVarRCV000767604.1, VCV000625596.1

No genotype data were submitted for this variant

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