A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061970



Internal ID19151189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46092749..46211213hg38UCSC Ensembl
Innerchr17:44170115..44288579hg19UCSC Ensembl
Innerchr17:41525932..41644356hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38118465
hg19118465
hg18118425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3192n100
Supporting Variantsnssv3720534
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061970
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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