A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv906889



Internal ID15854159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39927704..40004142hg38UCSC Ensembl
Innerchr2:40154844..40231282hg19UCSC Ensembl
Innerchr2:40008348..40084786hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3876439
hg1976439
hg1876439
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581498
Supporting Variants
Samples
Known GenesSLC8A1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv906889
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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