A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520923



Internal ID15101530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:226939917..226991247hg38UCSC Ensembl
Innerchr1:227127618..227178948hg19UCSC Ensembl
Innerchr1:225194241..225245571hg18UCSC Ensembl
Innerchr1:223434353..223485683hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3851331
hg1951331
hg1851331
hg1751331
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700080, nssv677713, nssv682689
Samples
Known GenesADCK3, CDC42BPA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520923
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer