A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519329



Internal ID15099936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:75364753..75892906hg38UCSC Ensembl
Innerchr1:75830438..76358591hg19UCSC Ensembl
Innerchr1:75603026..76131179hg18UCSC Ensembl
Innerchr1:75542459..76070612hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38528154
hg19528154
hg18528154
hg17528154
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv655463, nssv693180
Samples
Known GenesACADM, MSH4, RABGGTB, SLC44A5, SNORD45A, SNORD45B, SNORD45C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519329
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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