A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575222



Internal ID16015945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46187878..46193476hg38UCSC Ensembl
Innerchr17:44265244..44270842hg19UCSC Ensembl
Innerchr17:41621021..41626619hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg385599
hg195599
hg185599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5635n54
Supporting Variantsnssv872478
Samples
Known GenesKANSL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575222
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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