A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2079234



Internal ID17425699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16381541..16382888hg38UCSC Ensembl
Innerchr17:16284855..16286202hg19UCSC Ensembl
Innerchr17:16225580..16226927hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381348
hg191348
hg181348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960424
Supporting Variants
SamplesHGDP00542
Known GenesUBB
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)nssv2079234
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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