A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610991



Internal ID16398400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39379321..39386523hg38UCSC Ensembl
Innerchr8:39236840..39244042hg19UCSC Ensembl
Innerchr8:39355997..39363199hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg387203
hg197203
hg187203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12101n54
Supporting Variantsnssv1110471, nssv1110473, nssv1110476, nssv1110472, nssv1110474, nssv1110475, nssv1110477
Samples
Known GenesADAM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610991
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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