A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1970292



Internal ID17727670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:76980403..76981936hg38UCSC Ensembl
Innerchr13:77554538..77556071hg19UCSC Ensembl
Innerchr13:76452539..76454072hg18UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg381534
hg191534
hg181534
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974103
Supporting Variants
SamplesHGDP00456
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)nssv1970292
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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