A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3523143



Internal ID18474738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22757080..23416839hg38UCSC Ensembl
Innerchr13:23331219..23990978hg19UCSC Ensembl
Innerchr13:22229219..22888978hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38659760
hg19659760
hg18659760
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1046767
Supporting Variants
Samples
Known GenesBASP1P1, SACS, SGCG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3523143
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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