A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1965560



Internal ID17809860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:54439451..54445784hg38UCSC Ensembl
Innerchr13:55013586..55019919hg19UCSC Ensembl
Innerchr13:53911587..53917920hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg386334
hg196334
hg186334
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977246
Supporting Variants
SamplesHGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1965560
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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