A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609712



Internal ID16397121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3029688..3032796hg38UCSC Ensembl
Innerchr8:2887210..2890318hg19UCSC Ensembl
Innerchr8:2874617..2877725hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg383109
hg193109
hg183109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11855n54
Supporting Variantsnssv1104031
Samples
Known GenesCSMD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609712
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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