A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2347277



Internal ID17469005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17060703..17067878hg38UCSC Ensembl
Innerchr5:17060812..17067987hg19UCSC Ensembl
Innerchr5:17113812..17120987hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg387176
hg197176
hg187176
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968878
Supporting Variants
SamplesHGDP00927
Known Genes
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)nssv2347277
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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