A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1961068



Internal ID17727766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:40224749..40228465hg38UCSC Ensembl
Innerchr13:40798886..40802602hg19UCSC Ensembl
Innerchr13:39696886..39700602hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg383717
hg193717
hg183717
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977228
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)nssv1961068
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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