A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979629



Internal ID18614830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17192081..17193779hg38UCSC Ensembl
Innerchr22:17672971..17674669hg19UCSC Ensembl
Innerchr22:16052971..16054669hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2253876, nssv2253879, nssv2253871, nssv2253880, nssv2253878, nssv2253875, nssv2253874, nssv2253873, nssv2253877, nssv2253872
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCECR1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979629
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