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nsv3891146

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:10,876,213
  • Description:GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 24630 SVs from 123 studies. See in: genome view    
Remapped(Score: Perfect):139,191,883-150,068,095Question Mark
Overlapping variant regions from other studies: 24630 SVs from 123 studies. See in: genome view    
Submitted genomic139,513,020-150,389,231Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3891146RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr6139,191,883150,068,095
nsv3891146Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr6139,513,020150,389,231

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15150210copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000510942.2, VCV000442470.21

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15150210RemappedPerfectNC_000006.12:g.(?_
139191883)_(150068
095_?)del
GRCh38.p12First PassNC_000006.12Chr6139,191,883150,068,095
nssv15150210Submitted genomicNC_000006.11:g.(?_
139513020)_(150389
231_?)del
GRCh37 (hg19)NC_000006.11Chr6139,513,020150,389,231

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15150210GRCh37: NC_000006.11:g.(?_139513020)_(150389231_?)delcopy number lossnot providedSee casesPathogenicClinVarRCV000510942.2, VCV000442470.21

No genotype data were submitted for this variant

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