A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1657677



Internal ID15477620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:119683705..119688113hg38UCSC Ensembl
Innerchr4:120604860..120609268hg19UCSC Ensembl
Innerchr4:120824308..120828716hg18UCSC Ensembl
Innerchr4:120962463..120966871hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg384409
hg194409
hg184409
hg174409
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv441910
Supporting Variants
SamplesNA18594
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)nssv1657677
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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