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nsv3906152

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:30,840,184
  • Description:GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 97699 SVs from 135 studies. See in: genome view    
Remapped(Score: Good):49,416,057-80,256,240Question Mark
Overlapping variant regions from other studies: 97563 SVs from 135 studies. See in: genome view    
Submitted genomic46,942,427-78,014,123Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3906152RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1849,416,05780,256,240
nsv3906152Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1846,942,42778,014,123

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15155584copy number lossMultipleMultiplenot providedPathogenicClinVarRCV000684060.1, VCV000564571.11

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15155584RemappedGoodNC_000018.10:g.(?_
49416057)_(8025624
0_?)del
GRCh38.p12First PassNC_000018.10Chr1849,416,05780,256,240
nssv15155584Submitted genomicNC_000018.9:g.(?_4
6942427)_(78014123
_?)del
GRCh37 (hg19)NC_000018.9Chr1846,942,42778,014,123

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15155584GRCh37: NC_000018.9:g.(?_46942427)_(78014123_?)delcopy number lossgermlinenot providedPathogenicClinVarRCV000684060.1, VCV000564571.11

No genotype data were submitted for this variant

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