A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979162



Internal ID18267679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197523680..197535381hg38UCSC Ensembl
Innerchr2:198388404..198400105hg19UCSC Ensembl
Innerchr2:198096649..198108350hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3811702
hg1911702
hg1811702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2216390, nssv2216396, nssv2216393, nssv2216391, nssv2216394, nssv2216395, nssv2216387, nssv2216389, nssv2216388, nssv2216392
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHSPE1-MOB4, MOB4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979162
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