A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441979



Internal ID15154012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179302587..179504305hg38UCSC Ensembl
Innerchr5:178729588..178931306hg19UCSC Ensembl
Innerchr5:178662194..178863912hg18UCSC Ensembl
Innerchr5:178662194..178863912hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38201719
hg19201719
hg18201719
hg17201719
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658025, nssv1658024
SamplesNA18956, NA19000
Known GenesADAMTS2
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)nsv441979
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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