A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1651363



Internal ID15139642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46323701..46674934hg38UCSC Ensembl
Innerchr17:44401067..44752300hg19UCSC Ensembl
Innerchr17:41756832..42107479hg18UCSC Ensembl
Innerchr17:41756832..42107479hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38351234
hg19351234
hg18350648
hg17350648
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442749
Supporting Variants
SamplesNA18968
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1
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)nssv1651363
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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