A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1969938



Internal ID17880262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:83906769..83907444hg38UCSC Ensembl
Innerchr13:84480904..84481579hg19UCSC Ensembl
Innerchr13:83378905..83379580hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38676
hg19676
hg18676
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976137
Supporting Variants
SamplesHGDP01307
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)nssv1969938
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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