A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961921



Internal ID18250481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197502695..197504594hg38UCSC Ensembl
Innerchr2:198367419..198369318hg19UCSC Ensembl
Innerchr2:198075664..198077563hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381900
hg191900
hg181900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2216121, nssv2216125, nssv2216118, nssv2216126, nssv2216117, nssv2216119, nssv2216122, nssv2216124, nssv2216120, nssv2216123
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHSPE1, HSPE1-MOB4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961921
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