A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061108



Internal ID18803639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46137522..46199182hg38UCSC Ensembl
Innerchr17:44214888..44276548hg19UCSC Ensembl
Innerchr17:41570665..41632325hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3861661
hg1961661
hg1861661
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3221n100
Supporting Variantsnssv3723919, nssv3723921, nssv3556414, nssv3723920, nssv3556415
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)nsv1061108
Frequency
Sample Size29084
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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