A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984344



Internal ID18619531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69172186..69179504hg38UCSC Ensembl
Innerchr16:69206089..69213407hg19UCSC Ensembl
Innerchr16:67763590..67770908hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg387319
hg197319
hg187319
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2065657, nssv2065654, nssv2065652, nssv2065656, nssv2065655, nssv2065651, nssv2065658, nssv2065649, nssv2065650, nssv2065653
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)nsv984344
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