A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066386



Internal ID18808917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46085231..46148520hg38UCSC Ensembl
Innerchr17:44162597..44225886hg19UCSC Ensembl
Innerchr17:41518415..41581663hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3863290
hg1963290
hg1863249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3183n100
Supporting Variantsnssv3545311
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)nsv1066386
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