A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582129



Internal ID16022852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64879216..64919312hg38UCSC Ensembl
Innerchr2:65106350..65146446hg19UCSC Ensembl
Innerchr2:64959854..64999950hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3840097
hg1940097
hg1840097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150465
SamplesHGDP01287
Known GenesLOC400958
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582129
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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