A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518041



Internal ID15445334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49224260..49251457hg38UCSC Ensembl
Innerchr12:49618043..49645240hg19UCSC Ensembl
Innerchr12:47904310..47931507hg18UCSC Ensembl
Innerchr12:47904310..47931507hg17UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3827198
hg1927198
hg1827198
hg1727198
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695453
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518041
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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