A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2003840



Internal ID17784774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20504546..20511147hg38UCSC Ensembl
Innerchr15:20709799..20716390hg19UCSC Ensembl
Innerchr15:18969813..18976404hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg386602
hg196592
hg186592
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977647
Supporting Variants
SamplesHGDP00665
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)nssv2003840
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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