A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv672354



Internal ID15062320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45362878..45415482hg38UCSC Ensembl
Innerchr22:45758758..45811362hg19UCSC Ensembl
Innerchr22:44137422..44190026hg18UCSC Ensembl
Innerchr22:44079295..44131899hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3852605
hg1952605
hg1852605
hg1752605
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515690
Supporting Variants
Samples
Known GenesRIBC2, SMC1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv672354
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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