A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979004



Internal ID18614207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:49865667..49893518hg38UCSC Ensembl
Innerchr2:50092805..50120656hg19UCSC Ensembl
Innerchr2:49946309..49974160hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3827852
hg1927852
hg1827852
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2171726, nssv2172524, nssv2172526, nssv2171730, nssv2171727, nssv2172525, nssv2171728, nssv2172527, nssv2171729, nssv2171731
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)nsv979004
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