A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521649



Internal ID15448942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116689735..116698982hg38UCSC Ensembl
Innerchr12:117127540..117136787hg19UCSC Ensembl
Innerchr12:115611923..115621170hg18UCSC Ensembl
Innerchr12:115590260..115599507hg17UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg389248
hg199248
hg189248
hg179248
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698267
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521649
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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