A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2011425



Internal ID17835781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:28291680..28297073hg38UCSC Ensembl
Innerchr15:28536826..28542219hg19UCSC Ensembl
Innerchr15:26210421..26215814hg18UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg385394
hg195394
hg185394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976905
Supporting Variants
SamplesHGDP00998
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)nssv2011425
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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