A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979161



Internal ID18267678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197496311..197501196hg38UCSC Ensembl
Innerchr2:198361035..198365920hg19UCSC Ensembl
Innerchr2:198069280..198074165hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg384886
hg194886
hg184886
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2216023, nssv2216025, nssv2216028, nssv2216027, nssv2216024, nssv2216022, nssv2216029, nssv2216021, nssv2216020, nssv2216026
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHSPD1, HSPE1, HSPE1-MOB4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979161
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