A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964618



Internal ID18253169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29437362..29440414hg38UCSC Ensembl
Innerchr22:29833351..29836403hg19UCSC Ensembl
Innerchr22:28163351..28166403hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg383053
hg193053
hg183053
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2263304, nssv2263299, nssv2263302, nssv2263307, nssv2263306, nssv2263300, nssv2263301, nssv2263303, nssv2263308, nssv2263305
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesRFPL1, RFPL1S
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964618
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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