A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581637



Internal ID16369046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42220308..42226168hg38UCSC Ensembl
Innerchr2:42447448..42453308hg19UCSC Ensembl
Innerchr2:42300952..42306812hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg385861
hg195861
hg185861
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6825n54
Supporting Variantsnssv907872, nssv907871
Samples
Known GenesEML4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581637
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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