nsv3903462

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:3,131,639
  • Description:GRCh37/hg19 12q24.13-24.21(chr12:112963559-116095198)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 7693 SVs from 102 studies. See in: genome view    
Remapped(Score: Perfect):112,525,755-115,657,393Question Mark
Overlapping variant regions from other studies: 7694 SVs from 102 studies. See in: genome view    
Submitted genomic112,963,559-116,095,198Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3903462RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr12112,525,755115,657,393
nsv3903462Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000012.11Chr12112,963,559116,095,198

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15149265copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000446400.11

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15149265RemappedPerfectNC_000012.12:g.(?_
112525755)_(115657
393_?)del
GRCh38.p12First PassNC_000012.12Chr12112,525,755115,657,393
nssv15149265Submitted genomicNC_000012.11:g.(?_
112963559)_(116095
198_?)del
GRCh37 (hg19)NC_000012.11Chr12112,963,559116,095,198

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15149265GRCh37: NC_000012.11:g.(?_112963559)_(116095198_?)delcopy number lossnot providedSee casesPathogenicClinVarRCV000446400.11

No genotype data were submitted for this variant

Support Center