A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3714937



Internal ID18666532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19125919..19231740hg38UCSC Ensembl
Innerchr13:19700059..19805880hg19UCSC Ensembl
Innerchr13:18598059..18703880hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38105822
hg19105822
hg18105822
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1053637
Supporting Variants
Samples
Known GenesRNU6-52P, TUBA3C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3714937
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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