A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3677688



Internal ID18629283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7172456..8120653hg38UCSC Ensembl
Innerchr8:7029978..7978175hg19UCSC Ensembl
Innerchr8:7017388..8015585hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38948198
hg19948198
hg18998198
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1029612
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)nssv3677688
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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