A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2078064



Internal ID17788676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:15197499..15209463hg38UCSC Ensembl
Innerchr17:15100816..15112780hg19UCSC Ensembl
Innerchr17:15041541..15053505hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3811965
hg1911965
hg1811965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978366
Supporting Variants
SamplesHGDP00665
Known Genes
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)nssv2078064
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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