A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1963348



Internal ID17796265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:46416809..46435028hg38UCSC Ensembl
Innerchr13:46990944..47009163hg19UCSC Ensembl
Innerchr13:45888945..45907164hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg3818220
hg1918220
hg1818220
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv976111
Supporting Variants
SamplesHGDP00778
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1963348
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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