A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962554



Internal ID18597797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:10334597..10336584hg38UCSC Ensembl
Innerchr20:10315245..10317232hg19UCSC Ensembl
Innerchr20:10263245..10265232hg18UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg381988
hg191988
hg181988
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2230437, nssv2230438, nssv2230440, nssv2230444, nssv2230441, nssv2230442, nssv2230443, nssv2230435, nssv2230436, nssv2230439
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)nsv962554
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