A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978568



Internal ID18613771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14783134..14793435hg38UCSC Ensembl
Innerchr18:14783133..14793434hg19UCSC Ensembl
Innerchr18:14773133..14783434hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3810302
hg1910302
hg1810302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2119098, nssv2119092, nssv2116978, nssv2119093, nssv2119096, nssv2119095, nssv2116979, nssv2119099, nssv2119094, nssv2119097
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD30B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978568
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