A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3754013



Internal ID18705608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7137583..8151670hg38UCSC Ensembl
Innerchr8:6995105..8009192hg19UCSC Ensembl
Innerchr8:6982515..8046602hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381014088
hg191014088
hg181064088
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1026705
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, LINC00965, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3754013
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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