A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1967582



Internal ID17847078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:67891642..67916848hg38UCSC Ensembl
Innerchr13:68465774..68490980hg19UCSC Ensembl
Innerchr13:67363775..67388981hg18UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3825207
hg1925207
hg1825207
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977257
Supporting Variants
SamplesHGDP01029
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)nssv1967582
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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