A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3755220



Internal ID18706815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..8108655hg38UCSC Ensembl
Innerchr8:7250368..7966177hg19UCSC Ensembl
Innerchr8:7237778..8003587hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38715810
hg19715810
hg18765810
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1015422
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3755220
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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