A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519545



Internal ID15446838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71356061..71431411hg38UCSC Ensembl
Innerchr2:71583191..71658541hg19UCSC Ensembl
Innerchr2:71436699..71512049hg18UCSC Ensembl
Innerchr2:71494846..71570196hg17UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3875351
hg1975351
hg1875351
hg1775351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696913
Samples
Known GenesZNF638
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519545
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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