A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2007717



Internal ID17835389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22519558..22524713hg38UCSC Ensembl
Innerchr15:23348383..23353538hg19UCSC Ensembl
Innerchr15:20899824..20904979hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg385156
hg195156
hg185156
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977663
Supporting Variants
SamplesHGDP00998
Known GenesHERC2P2
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)nssv2007717
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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