A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032365



Internal ID18774899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2193919..3112296hg38UCSC Ensembl
Innerchr8:2141450..2969818hg19UCSC Ensembl
Innerchr8:2128857..2957225hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38918378
hg19828369
hg18828369
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6815n100
Supporting Variantsnssv3675181
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)nsv1032365
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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