A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582688



Internal ID16023411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110131531..110161744hg38UCSC Ensembl
Innerchr2:110889108..110919321hg19UCSC Ensembl
Innerchr2:110246397..110276610hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3830214
hg1930214
hg1830214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150486
SamplesHGDP00116
Known GenesNPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582688
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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