A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518033



Internal ID15098640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132150976..132441765hg38UCSC Ensembl
Innerchr12:132635521..133018351hg19UCSC Ensembl
Innerchr12:131201474..131528424hg18UCSC Ensembl
Innerchr12:131301751..131628701hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38290790
hg19382831
hg18326951
hg17326951
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv103n21
Supporting Variantsnssv695442
Samples
Known GenesGALNT9, LOC100130238, NOC4L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518033
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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