A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694122



Internal ID15430774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:114531958..114568632hg38UCSC Ensembl
Innerchr12:114969763..115006437hg19UCSC Ensembl
Innerchr12:113454146..113490820hg18UCSC Ensembl
Innerchr12:113432483..113469157hg17UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3836675
hg1936675
hg1836675
hg1736675
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522051
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694122
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