A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524133



Internal ID6017366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:27634064..27716308hg19UCSC Ensembl
Innerchr8:27689983..27772227hg18UCSC Ensembl
Innerchr8:27689983..27772227hg17UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv700011
Samples
Known GenesESCO2, PBK
Method
AnalysisCNV regions located outside of or spanning over several merged-level regions determined by the submitter
PlatformIllumina HumanHap550 Genotyping BeadChip v3
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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