A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3523117



Internal ID18474712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19730301..20507454hg38UCSC Ensembl
Innerchr13:20304441..21081593hg19UCSC Ensembl
Innerchr13:19202441..19979593hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38777154
hg19777153
hg18777153
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1046946
Supporting Variants
Samples
Known GenesCRYL1, GJA3, GJB2, GJB6, MIR4499, PSPC1, ZMYM2, ZMYM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3523117
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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