A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2081876



Internal ID17731898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:17008950..17019532hg38UCSC Ensembl
Innerchr17:16912264..16922846hg19UCSC Ensembl
Innerchr17:16852989..16863571hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3810583
hg1910583
hg1810583
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962271
Supporting Variants
SamplesHGDP00456
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)nssv2081876
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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