A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027569



Internal ID18770101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2660367..3086961hg38UCSC Ensembl
Innerchr8:2517882..2944483hg19UCSC Ensembl
Innerchr8:2505289..2931890hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38426595
hg19426602
hg18426602
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3675292
Samples
Known GenesCSMD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027569
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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