A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1960714



Internal ID17532558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:46459416..46468502hg38UCSC Ensembl
Innerchr13:47033551..47042637hg19UCSC Ensembl
Innerchr13:45931552..45940638hg18UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg389087
hg199087
hg189087
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974086
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)nssv1960714
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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