A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3685573



Internal ID18637168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:38199815..38249049hg38UCSC Ensembl
Innerchr8:38057333..38106567hg19UCSC Ensembl
Innerchr8:38176490..38225724hg18UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg3849235
hg1949235
hg1849235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1022025
Supporting Variants
Samples
Known GenesBAG4, DDHD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3685573
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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