A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525752



Internal ID15453045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:110610710..110752547hg38UCSC Ensembl
Innerchr5:109946411..110088247hg19UCSC Ensembl
Innerchr5:109974310..110116146hg18UCSC Ensembl
Innerchr5:109974310..110116146hg17UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38141838
hg19141837
hg18141837
hg17141837
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701919
Samples
Known GenesSLC25A46, TMEM232
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525752
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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