A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv692291



Internal ID15428943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22184271..22312841hg38UCSC Ensembl
Innerchr12:22337205..22465775hg19UCSC Ensembl
Innerchr12:22228472..22357042hg18UCSC Ensembl
Innerchr12:22228472..22357042hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38128571
hg19128571
hg18128571
hg17128571
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521274
Supporting Variants
Samples
Known GenesST8SIA1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv692291
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