A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3680171



Internal ID18631766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7433385..7528213hg38UCSC Ensembl
Innerchr8:7290907..7385735hg19UCSC Ensembl
Innerchr8:7278317..7373145hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3894829
hg1994829
hg1894829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1035114
Supporting Variants
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3680171
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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