A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524483



Internal ID15105090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29129138..29234348hg38UCSC Ensembl
Innerchr22:29525126..29630337hg19UCSC Ensembl
Innerchr22:27855126..27960337hg18UCSC Ensembl
Innerchr22:27849680..27954891hg17UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38105211
hg19105212
hg18105212
hg17105212
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700421
Samples
Known GenesEMID1, KREMEN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524483
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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