A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519280



Internal ID15446573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:77256672..77293048hg38UCSC Ensembl
Innerchr12:77650452..77686828hg19UCSC Ensembl
Innerchr12:76174583..76210959hg18UCSC Ensembl
Innerchr12:76152920..76189296hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3836377
hg1936377
hg1836377
hg1736377
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696763
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519280
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer