A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1651298



Internal ID15115667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088435..46286848hg38UCSC Ensembl
Innerchr17:44165801..44364214hg19UCSC Ensembl
Innerchr17:41521619..41719991hg18UCSC Ensembl
Innerchr17:41521619..41719991hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38198414
hg19198414
hg18198373
hg17198373
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442748
Supporting Variants
SamplesNA11882
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nssv1651298
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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