A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3753693



Internal ID18705288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7545386..7919096hg38UCSC Ensembl
Innerchr8:7402908..7776618hg19UCSC Ensembl
Innerchr8:7390318..7814028hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38373711
hg19373711
hg18423711
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1021673
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3753693
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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