nsv4456811

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:112,991,351
  • Description:GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 AND not provided

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 259934 SVs from 141 studies. See in: genome view    
Remapped(Score: Good):32,079,035-145,070,385Question Mark
Overlapping variant regions from other studies: 259773 SVs from 141 studies. See in: genome view    
Submitted genomic31,936,551-146,295,771Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv4456811RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000008.11Chr832,079,035145,070,385
nsv4456811Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000008.10Chr831,936,551146,295,771

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15777249copy number gainMultipleMultiplenot providedPathogenicClinVarRCV000848192.13

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15777249RemappedGoodNC_000008.11:g.(?_
32079035)_(1450703
85_?)dup
GRCh38.p12First PassNC_000008.11Chr832,079,035145,070,385
nssv15777249Submitted genomicNC_000008.10:g.(?_
31936551)_(1462957
71_?)dup
GRCh37 (hg19)NC_000008.10Chr831,936,551146,295,771

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15777249GRCh37: NC_000008.10:g.(?_31936551)_(146295771_?)dupcopy number gainunknownnot providedPathogenicClinVarRCV000848192.13

No genotype data were submitted for this variant

Support Center