A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610993



Internal ID16398402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39379321..39526709hg38UCSC Ensembl
Innerchr8:39236840..39384228hg19UCSC Ensembl
Innerchr8:39355997..39503385hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38147389
hg19147389
hg18147389
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12095n54
Supporting Variantsnssv1110479
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610993
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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