A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978468



Internal ID18266987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81509722..81520115hg38UCSC Ensembl
Innerchr17:79476748..79487141hg19UCSC Ensembl
Innerchr17:77091343..77101736hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3810394
hg1910394
hg1810394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2111562, nssv2111570, nssv2111567, nssv2111564, nssv2111561, nssv2111563, nssv2111565, nssv2111566, nssv2111569, nssv2111568
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesACTG1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978468
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