A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963740



Internal ID18598980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:161339932..161340535hg38UCSC Ensembl
Innerchr2:162196443..162197046hg19UCSC Ensembl
Innerchr2:161904689..161905292hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38604
hg19604
hg18604
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2209202, nssv2209201, nssv2209200, nssv2209194, nssv2209199, nssv2209203, nssv2209196, nssv2209197, nssv2209198, nssv2209195
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPSMD14
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963740
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