A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2074437



Internal ID17424527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:6658135..6663613hg38UCSC Ensembl
Innerchr17:6561454..6566932hg19UCSC Ensembl
Innerchr17:6502178..6507656hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg385479
hg195479
hg185479
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978354
Supporting Variants
SamplesHGDP00542
Known GenesALOX15P1
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)nssv2074437
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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