A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060493



Internal ID18803024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46170462hg38UCSC Ensembl
Innerchr17:44165803..44247828hg19UCSC Ensembl
Innerchr17:41521621..41603605hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3882026
hg1982026
hg1881985
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3186n100
Supporting Variantsnssv3720307
Samples
Known GenesKANSL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060493
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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