A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964634



Internal ID18253185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:40824919..40826759hg38UCSC Ensembl
Innerchr22:41220923..41222763hg19UCSC Ensembl
Innerchr22:39550869..39552709hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381841
hg191841
hg181841
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2267335, nssv2267338, nssv2267337, nssv2267331, nssv2267339, nssv2267332, nssv2267330, nssv2267333, nssv2267336, nssv2267334
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesST13
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964634
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