A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581713



Internal ID16022436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45413195..45414790hg38UCSC Ensembl
Innerchr2:45640334..45641929hg19UCSC Ensembl
Innerchr2:45493838..45495433hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381596
hg191596
hg181596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv908049
Samples
Known GenesSRBD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581713
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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