A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527393



Internal ID15108000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17775616..17788013hg38UCSC Ensembl
Innerchr22:18258382..18270779hg19UCSC Ensembl
Innerchr22:16638382..16650779hg18UCSC Ensembl
Innerchr22:16632936..16645333hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3812398
hg1912398
hg1812398
hg1712398
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703828
Samples
Known GenesLINC00528, MICAL3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527393
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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