A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521218



Internal ID15101825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:140924196..140946305hg38UCSC Ensembl
Innerchr3:140643038..140665147hg19UCSC Ensembl
Innerchr3:142125728..142147837hg18UCSC Ensembl
Innerchr3:142125736..142147845hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3822110
hg1922110
hg1822110
hg1722110
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv685561, nssv685337
Samples
Known GenesSLC25A36
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521218
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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