A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2012679



Internal ID17734296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:28320537..28327130hg38UCSC Ensembl
Innerchr15:28565683..28572276hg19UCSC Ensembl
Innerchr15:26239278..26245871hg18UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg386594
hg196594
hg186594
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974539
Supporting Variants
SamplesHGDP00456
Known GenesHERC2
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)nssv2012679
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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