A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1657706



Internal ID15497267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143999421..144003784hg38UCSC Ensembl
Innerchr4:144920574..144924937hg19UCSC Ensembl
Innerchr4:145140024..145144387hg18UCSC Ensembl
Innerchr4:145278179..145282542hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg384364
hg194364
hg184364
hg174364
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv441919
Supporting Variants
SamplesNA19200
Known GenesGYPB
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)nssv1657706
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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