A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1960663



Internal ID17879146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42067564..42071321hg38UCSC Ensembl
Innerchr13:42641700..42645457hg19UCSC Ensembl
Innerchr13:41539700..41543457hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg383758
hg193758
hg183758
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976109
Supporting Variants
SamplesHGDP01307
Known GenesDGKH
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)nssv1960663
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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