A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3523149



Internal ID18474744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22945779..24362849hg38UCSC Ensembl
Innerchr13:23519918..24936987hg19UCSC Ensembl
Innerchr13:22417918..23834987hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg381417071
hg191417070
hg181417070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1043043
Supporting Variants
Samples
Known GenesANKRD20A19P, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1, LINC00327, MIPEP, MIR2276, SACS, SACS-AS1, SGCG, SPATA13, SPATA13-AS1, TNFRSF19
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3523149
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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