A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1104029



Internal ID15610529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2872547..3175339hg38UCSC Ensembl
Innerchr8:2730069..3032861hg19UCSC Ensembl
Innerchr8:2717476..3020268hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38302793
hg19302793
hg18302793
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv609710
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)nssv1104029
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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