A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521072



Internal ID15448365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:132703440..132730188hg38UCSC Ensembl
Innerchr5:132039132..132065880hg19UCSC Ensembl
Innerchr5:132067031..132093779hg18UCSC Ensembl
Innerchr5:132067031..132093779hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3826749
hg1926749
hg1826749
hg1726749
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv689546, nssv682210, nssv681265
Samples
Known GenesKIF3A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521072
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