A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1104042



Internal ID15957228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3029688..3036410hg38UCSC Ensembl
Innerchr8:2887210..2893932hg19UCSC Ensembl
Innerchr8:2874617..2881339hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg386723
hg196723
hg186723
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv609714
Supporting Variants
Samples
Known GenesCSMD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1104042
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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