A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2079364



Internal ID17772583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16690965..16745730hg38UCSC Ensembl
Innerchr17:16594279..16649044hg19UCSC Ensembl
Innerchr17:16535004..16589769hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3854766
hg1954766
hg1854766
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978373
Supporting Variants
SamplesHGDP00542
Known GenesCCDC144A
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)nssv2079364
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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