A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978989



Internal ID18614192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28014119..28016839hg38UCSC Ensembl
Innerchr2:28236986..28239706hg19UCSC Ensembl
Innerchr2:28090490..28093210hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg382721
hg192721
hg182721
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2168227, nssv2168220, nssv2168226, nssv2168222, nssv2168218, nssv2168224, nssv2168221, nssv2168223, nssv2168219, nssv2168225
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBRE
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978989
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