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nsv6290935

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:553,112
  • Description:GRCh37/hg19 6p12.3(chr6:49459881-50012992)x1 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 1380 SVs from 76 studies. See in: genome view    
Remapped(Score: Perfect):49,492,168-50,045,279Question Mark
Overlapping variant regions from other studies: 1380 SVs from 76 studies. See in: genome view    
Submitted genomic49,459,881-50,012,992Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv6290935RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr649,492,16850,045,279
nsv6290935Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr649,459,88150,012,992

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv17957275copy number lossMultipleMultiplenot providedUncertain significanceClinVarRCV001836484.1, VCV001340034.11

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv17957275RemappedPerfectNC_000006.12:g.(?_
49492168)_(5004527
9_?)del
GRCh38.p12First PassNC_000006.12Chr649,492,16850,045,279
nssv17957275Submitted genomicNC_000006.11:g.(?_
49459881)_(5001299
2_?)del
GRCh37 (hg19)NC_000006.11Chr649,459,88150,012,992

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv17957275GRCh37: NC_000006.11:g.(?_49459881)_(50012992_?)delcopy number lossgermlinenot providedUncertain significanceClinVarRCV001836484.1, VCV001340034.11

No genotype data were submitted for this variant

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