A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1956732



Internal ID17760679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:27696122..27707713hg38UCSC Ensembl
Innerchr13:28270259..28281850hg19UCSC Ensembl
Innerchr13:27168259..27179850hg18UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg3811592
hg1911592
hg1811592
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977220
Supporting Variants
SamplesHGDP00542
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)nssv1956732
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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