A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518506



Internal ID8412781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:110533475..110575688hg38UCSC Ensembl
Innerchr4:111454631..111496844hg19UCSC Ensembl
Innerchr4:111674080..111716293hg18UCSC Ensembl
Innerchr4:111812235..111854448hg17UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3842214
hg1942214
hg1842214
hg1742214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695947
Samples
Known GenesENPEP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518506
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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