A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2102993



Internal ID17420785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:56829907..56830788hg38UCSC Ensembl
Innerchr17:54907268..54908149hg19UCSC Ensembl
Innerchr17:52262267..52263148hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38882
hg19882
hg18882
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962344
Supporting Variants
SamplesHGDP00542
Known GenesC17orf67
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)nssv2102993
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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