A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063184



Internal ID18805715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46124010..46171482hg38UCSC Ensembl
Innerchr17:44201376..44248848hg19UCSC Ensembl
Innerchr17:41557154..41604625hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3847473
hg1947473
hg1847472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3205n100
Supporting Variantsnssv3549836
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)nsv1063184
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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