A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701919



Internal ID15438571
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525752
Supporting Variants
Samples
Known GenesSLC25A46, TMEM232
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701919
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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