A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2109918



Internal ID17474494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75223902..75225154hg38UCSC Ensembl
Innerchr17:73219997..73221249hg19UCSC Ensembl
Innerchr17:70731592..70732844hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381253
hg191253
hg181253
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960528
Supporting Variants
SamplesHGDP00927
Known GenesNUP85
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)nssv2109918
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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