A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979176



Internal ID18614379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:219271198..219274209hg38UCSC Ensembl
Innerchr2:220135920..220138931hg19UCSC Ensembl
Innerchr2:219844164..219847175hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg383012
hg193012
hg183012
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2222678, nssv2222682, nssv2222677, nssv2222674, nssv2222681, nssv2222673, nssv2222676, nssv2222680, nssv2222679, nssv2222675
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTUBA4B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979176
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