A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv971518



Internal ID15918788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:112372373..112489903hg38UCSC Ensembl
Innerchr3:112091220..112208750hg19UCSC Ensembl
Innerchr3:113573910..113691440hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38117531
hg19117531
hg18117531
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv591294
Supporting Variants
Samples
Known GenesBTLA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv971518
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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