A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065381



Internal ID18807912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46188656hg38UCSC Ensembl
Innerchr17:44165803..44266022hg19UCSC Ensembl
Innerchr17:41521621..41621799hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38100220
hg19100220
hg18100179
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3182n100
Supporting Variantsnssv3546257, nssv3546256, nssv3546258
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)nsv1065381
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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