A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960403



Internal ID18248968
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 StatusM
Merged Variants
Supporting Variantsnssv2075578, nssv2075579, nssv2075582, nssv2075580, nssv2075581, nssv2075584, nssv2075587, nssv2075585, nssv2075586, nssv2075583
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPL26
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960403
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer