A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524133



Internal ID8418408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:27776547..27858791hg38UCSC Ensembl
Innerchr8:27634064..27716308hg19UCSC Ensembl
Innerchr8:27689983..27772227hg18UCSC Ensembl
Innerchr8:27689983..27772227hg17UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3882245
hg1982245
hg1882245
hg1782245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700011
Samples
Known GenesESCO2, PBK
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524133
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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