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nsv4768376

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:15,710,668
  • Description:GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1 AND Deletion 6q16 q21

Genome View

Select assembly:
Overlapping variant regions from other studies: 38430 SVs from 134 studies. See in: genome view    
Remapped(Score: Good):98,502,074-114,212,741Question Mark
Overlapping variant regions from other studies: 38285 SVs from 134 studies. See in: genome view    
Submitted genomic98,949,950-114,533,905Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv4768376RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr698,502,074114,212,741
nsv4768376Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr698,949,950114,533,905

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv16296943copy number lossMultipleMultipleDeletion 6q16 q21PathogenicClinVarRCV001263224.1, VCV000981211.11

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv16296943RemappedGoodNC_000006.12:g.(?_
98502074)_(1142127
41_?)del
GRCh38.p12First PassNC_000006.12Chr698,502,074114,212,741
nssv16296943Submitted genomicNC_000006.11:g.(?_
98949950)_(1145339
05_?)del
GRCh37 (hg19)NC_000006.11Chr698,949,950114,533,905

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv16296943GRCh37: NC_000006.11:g.(?_98949950)_(114533905_?)delcopy number lossgermlineDeletion 6q16 q21PathogenicClinVarRCV001263224.1, VCV000981211.11

No genotype data were submitted for this variant

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