A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979446



Internal ID18614649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:56600653..56603194hg38UCSC Ensembl
Innerchr20:55175709..55178250hg19UCSC Ensembl
Innerchr20:54609116..54611657hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg382542
hg192542
hg182542
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2240807, nssv2240805, nssv2240802, nssv2240809, nssv2240806, nssv2240800, nssv2240801, nssv2240808, nssv2240803, nssv2240804
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)nsv979446
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