A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2090138



Internal ID17863076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:32053577..32085566hg38UCSC Ensembl
Innerchr17:30380596..30412585hg19UCSC Ensembl
Innerchr17:27404709..27436698hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3831990
hg1931990
hg1831990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv978411
Supporting Variants
SamplesHGDP01284
Known Genes
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)nssv2090138
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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