A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2079460



Internal ID17735070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16745730..16759465hg38UCSC Ensembl
Innerchr17:16649044..16662779hg19UCSC Ensembl
Innerchr17:16589769..16603504hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3813736
hg1913736
hg1813736
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960063
Supporting Variants
SamplesHGDP00456
Known GenesCCDC144A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2079460
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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