A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv890700



Internal ID6297711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:27664686..27698237hg19UCSC Ensembl
Outerchr8:27645704..27702453hg19UCSC Ensembl
Innerchr8:27720605..27754156hg18UCSC Ensembl
Outerchr8:27701623..27758372hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1567780
SamplesIS31145
Known GenesESCO2, PBK
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv890700
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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