A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582194



Internal ID16369603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71115426..71120629hg38UCSC Ensembl
Innerchr2:71342556..71347759hg19UCSC Ensembl
Innerchr2:71196064..71201267hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg385204
hg195204
hg185204
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6918n54
Supporting Variantsnssv912169
Samples
Known GenesMCEE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582194
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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