A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2089794



Internal ID17850744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:29331613..29343622hg38UCSC Ensembl
Innerchr17:27658631..27670640hg19UCSC Ensembl
Innerchr17:24682757..24694766hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3812010
hg1912010
hg1812010
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960459
Supporting Variants
SamplesHGDP01029
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)nssv2089794
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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