A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv678956



Internal ID15068922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:13511552..14800057hg38UCSC Ensembl
Innerchr8:13369061..14657566hg19UCSC Ensembl
Innerchr8:13413432..14701937hg18UCSC Ensembl
Innerchr8:13413432..14701937hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381288506
hg191288506
hg181288506
hg171288506
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)nssv678956
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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