A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979172



Internal ID18614375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:214844413..214850573hg38UCSC Ensembl
Innerchr2:215709137..215715297hg19UCSC Ensembl
Innerchr2:215417382..215423542hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg386161
hg196161
hg186161
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2220960, nssv2220961, nssv2220958, nssv2220954, nssv2220953, nssv2220955, nssv2220959, nssv2220956, nssv2220957, nssv2220952
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)nsv979172
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