A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522379



Internal ID15102986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31663689..31664229hg38UCSC Ensembl
Innerchr12:31816623..31817163hg19UCSC Ensembl
Innerchr12:31707890..31708430hg18UCSC Ensembl
Innerchr12:31707890..31708430hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38541
hg19541
hg18541
hg17541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695159
Samples
Known GenesMETTL20
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522379
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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