A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960528



Internal ID18249093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75223902..75225154hg38UCSC Ensembl
Innerchr17:73219997..73221249hg19UCSC Ensembl
Innerchr17:70731592..70732844hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381253
hg191253
hg181253
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2109913, nssv2109917, nssv2109910, nssv2109912, nssv2109916, nssv2109911, nssv2109915, nssv2109914, nssv2109918, nssv2109909
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesNUP85
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960528
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