A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516855



Internal ID15097462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236435808..236624489hg38UCSC Ensembl
Innerchr1:236599108..236787789hg19UCSC Ensembl
Innerchr1:234665731..234854412hg18UCSC Ensembl
Innerchr1:232925149..233113830hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38188682
hg19188682
hg18188682
hg17188682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv654460, nssv658486, nssv659604, nssv683069, nssv684990
Samples
Known GenesEDARADD, HEATR1, LGALS8, LGALS8-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516855
Frequency
Sample Size2026
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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