A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv662348



Internal ID15052314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:13511552..14801106hg38UCSC Ensembl
Innerchr8:13369061..14658615hg19UCSC Ensembl
Innerchr8:13413432..14702986hg18UCSC Ensembl
Innerchr8:13413432..14702986hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381289555
hg191289555
hg181289555
hg171289555
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517019
Supporting Variants
Samples
Known GenesC8orf48, DLC1, SGCZ
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv662348
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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