A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518307



Internal ID15445600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231307255..231327593hg38UCSC Ensembl
Innerchr2:232171968..232192305hg19UCSC Ensembl
Innerchr2:231880212..231900549hg18UCSC Ensembl
Innerchr2:231997473..232017810hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3820339
hg1920338
hg1820338
hg1720338
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695739
Samples
Known GenesARMC9
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518307
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