A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022834



Internal ID18765368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:13067043..14121780hg38UCSC Ensembl
Innerchr8:12924552..13979289hg19UCSC Ensembl
Innerchr8:12968923..14023660hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381054738
hg191054738
hg181054738
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3760198
Samples
Known GenesC8orf48, DLC1, SGCZ
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022834
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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