A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611030



Internal ID16398439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39393511..39499982hg38UCSC Ensembl
Innerchr8:39251030..39357501hg19UCSC Ensembl
Innerchr8:39370187..39476658hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38106472
hg19106472
hg18106472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12103n54
Supporting Variantsnssv1111118, nssv1111123, nssv1111119, nssv1111122, nssv1111120, nssv1111121
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611030
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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