A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3680929



Internal ID18632524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7838727..8132760hg38UCSC Ensembl
Innerchr8:7696249..7990282hg19UCSC Ensembl
Innerchr8:7733659..8027692hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38294034
hg19294034
hg18294034
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1025203
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB109P1B, DEFB4A, FAM66E, MIR548I3, 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)nssv3680929
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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