A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978448



Internal ID18613653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60433731..60435946hg38UCSC Ensembl
Innerchr17:58511092..58513307hg19UCSC Ensembl
Innerchr17:55865874..55868089hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382216
hg192216
hg182216
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2105872, nssv2105869, nssv2105876, nssv2105871, nssv2105870, nssv2105867, nssv2105875, nssv2105873, nssv2105874, nssv2105868
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)nsv978448
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