A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581488



Internal ID16022211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38728835..38742988hg38UCSC Ensembl
Innerchr2:38955977..38970130hg19UCSC Ensembl
Innerchr2:38809481..38823634hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3814154
hg1914154
hg1814154
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6790n54
Supporting Variantsnssv906878, nssv906879
Samples
Known GenesGALM
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581488
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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