A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2083041



Internal ID17854216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18907112..18910858hg38UCSC Ensembl
Innerchr17:18810425..18814171hg19UCSC Ensembl
Innerchr17:18751150..18754896hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383747
hg193747
hg183747
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978382
Supporting Variants
SamplesHGDP01029
Known GenesPRPSAP2
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)nssv2083041
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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