A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1970641



Internal ID17436390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:78848608..78851851hg38UCSC Ensembl
Innerchr13:79422743..79425986hg19UCSC Ensembl
Innerchr13:78320744..78323987hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg383244
hg193244
hg183244
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974107
Supporting Variants
SamplesHGDP00665
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)nssv1970641
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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