A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032823



Internal ID18775357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:13472267..13762903hg38UCSC Ensembl
Innerchr8:13329776..13620412hg19UCSC Ensembl
Innerchr8:13374147..13664783hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38290637
hg19290637
hg18290637
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3760201, nssv3760202, nssv3666990
Samples
Known GenesC8orf48, DLC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032823
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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