A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2080703



Internal ID17729646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:17583841..17585696hg38UCSC Ensembl
Innerchr17:17487155..17489010hg19UCSC Ensembl
Innerchr17:17427880..17429735hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381856
hg191856
hg181856
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960427
Supporting Variants
SamplesHGDP00456
Known GenesPEMT
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)nssv2080703
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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