A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581696



Internal ID16022419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44297436..44330780hg38UCSC Ensembl
Innerchr2:44524575..44557919hg19UCSC Ensembl
Innerchr2:44378079..44411423hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3833345
hg1933345
hg1833345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6838n54
Supporting Variantsnssv908036
Samples
Known GenesPREPL, SLC3A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581696
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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