A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2087444



Internal ID17754922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27411872..27433976hg38UCSC Ensembl
Innerchr17:25738898..25761002hg19UCSC Ensembl
Innerchr17:22763025..22785129hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3822105
hg1922105
hg1822105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960080
Supporting Variants
SamplesHGDP00521
Known GenesTBC1D3P5
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)nssv2087444
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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