A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1657463



Internal ID15140495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:25712604..25729254hg38UCSC Ensembl
Innerchr4:25714226..25730876hg19UCSC Ensembl
Innerchr4:25323324..25339974hg18UCSC Ensembl
Innerchr4:25390495..25407145hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3816651
hg1916651
hg1816651
hg1716651
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv441864
Supporting Variants
SamplesNA18974
Known Genes
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)nssv1657463
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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