A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978354



Internal ID18266873
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 StatusM
Merged Variants
Supporting Variantsnssv2074434, nssv2074431, nssv2074440, nssv2074432, nssv2074439, nssv2074436, nssv2074433, nssv2074438, nssv2074435, nssv2074437
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesALOX15P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978354
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