A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960090



Internal ID18595343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31562716..31564702hg38UCSC Ensembl
Innerchr17:29889735..29891721hg19UCSC Ensembl
Innerchr17:26913848..26915834hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381987
hg191987
hg181987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2090934, nssv2090936, nssv2090933, nssv2090932, nssv2090935, nssv2090931, nssv2090929, nssv2090930, nssv2090928, nssv2090937
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960090
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