A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2099314



Internal ID17851938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47011077..47064378hg38UCSC Ensembl
Innerchr17:45088443..45141744hg19UCSC Ensembl
Innerchr17:42443442..42496743hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3853302
hg1953302
hg1853302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962331
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)nssv2099314
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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