A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1963151



Internal ID17388050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49699496..49700188hg38UCSC Ensembl
Innerchr13:50273632..50274324hg19UCSC Ensembl
Innerchr13:49171633..49172325hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38693
hg19693
hg18693
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983586
Supporting Variants
SamplesHGDP00456
Known GenesKPNA3
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)nssv1963151
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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