A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2075587



Internal ID17468534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:8376914..8382511hg38UCSC Ensembl
Innerchr17:8280232..8285829hg19UCSC Ensembl
Innerchr17:8220957..8226554hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg385598
hg195598
hg185598
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960403
Supporting Variants
SamplesHGDP00927
Known GenesRPL26
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)nssv2075587
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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