A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584102



Internal ID16371511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:194382880..194501360hg38UCSC Ensembl
Innerchr2:195247604..195366084hg19UCSC Ensembl
Innerchr2:194955849..195074329hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38118481
hg19118481
hg18118481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7240n54
Supporting Variantsnssv1151123, nssv930173, nssv930172
SamplesHGDP01197
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584102
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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