A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441974



Internal ID15154007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172653533..172735931hg38UCSC Ensembl
Innerchr5:172080536..172162934hg19UCSC Ensembl
Innerchr5:172013141..172095539hg18UCSC Ensembl
Innerchr5:172013141..172095539hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3882399
hg1982399
hg1882399
hg1782399
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658005, nssv1658004, nssv1658007, nssv1658006, nssv1658003
SamplesNA19145, NA19098, NA19137, NA19100, NA19143
Known GenesNEURL1B
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)nsv441974
Frequency
Sample Size270
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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