A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517800



Internal ID15098407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:26449146..26617624hg38UCSC Ensembl
Innerchr2:26672014..26840492hg19UCSC Ensembl
Innerchr2:26525518..26693996hg18UCSC Ensembl
Innerchr2:26583665..26752143hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38168479
hg19168479
hg18168479
hg17168479
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695203
Samples
Known GenesC2orf70, CIB4, DRC1, OTOF
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517800
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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