A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3678832



Internal ID18630427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7359638..7542882hg38UCSC Ensembl
Innerchr8:7217160..7400404hg19UCSC Ensembl
Innerchr8:7204570..7387814hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38183245
hg19183245
hg18183245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1022302
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, PRR23D1, PRR23D2, SPAG11B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3678832
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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