A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964619



Internal ID18253170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:30044674..30048507hg38UCSC Ensembl
Innerchr22:30440663..30444496hg19UCSC Ensembl
Innerchr22:28770663..28774496hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg383834
hg193834
hg183834
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2264287, nssv2264290, nssv2264289, nssv2264288, nssv2264286, nssv2264292, nssv2264285, nssv2264294, nssv2264293, nssv2264291
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964619
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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