A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610992



Internal ID16398401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39379321..39507504hg38UCSC Ensembl
Innerchr8:39236840..39365023hg19UCSC Ensembl
Innerchr8:39355997..39484180hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38128184
hg19128184
hg18128184
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12092n54
Supporting Variantsnssv1110478
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610992
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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