A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv683917



Internal ID15420569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93293034..93299685hg38UCSC Ensembl
Innerchr12:93686810..93693461hg19UCSC Ensembl
Innerchr12:92210941..92217592hg18UCSC Ensembl
Innerchr12:92189278..92195929hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg386652
hg196652
hg186652
hg176652
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516635
Supporting Variants
Samples
Known GenesLOC643339
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv683917
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