A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524511



Internal ID15105118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29481428..29481636hg38UCSC Ensembl
Innerchr22:29877417..29877625hg19UCSC Ensembl
Innerchr22:28207417..28207625hg18UCSC Ensembl
Innerchr22:28201971..28202179hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38209
hg19209
hg18209
hg17209
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700455
Samples
Known GenesNEFH
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524511
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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