A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2003744



Internal ID17817658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20476932..20481054hg38UCSC Ensembl
Innerchr15:20682185..20686307hg19UCSC Ensembl
Innerchr15:18942199..18946321hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg384123
hg194123
hg184123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984008
Supporting Variants
SamplesHGDP00927
Known GenesHERC2P3
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)nssv2003744
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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