A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700213



Internal ID15436865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:93742184..93751802hg38UCSC Ensembl
Innerchr14:94208530..94218148hg19UCSC Ensembl
Innerchr14:93278283..93287901hg18UCSC Ensembl
Innerchr14:93278283..93287901hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg389619
hg199619
hg189619
hg179619
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524311
Supporting Variants
Samples
Known GenesPRIMA1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700213
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