A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3753718



Internal ID18705313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7886530..7987051hg38UCSC Ensembl
Innerchr8:7744052..7844573hg19UCSC Ensembl
Innerchr8:7781462..7881983hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38100522
hg19100522
hg18100522
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1034278
Supporting Variants
Samples
Known GenesDEFB4A, FAM66E, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3753718
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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