A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441897



Internal ID15153930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88102936..88160287hg38UCSC Ensembl
Innerchr4:89024088..89081439hg19UCSC Ensembl
Innerchr4:89243112..89300463hg18UCSC Ensembl
Innerchr4:89381267..89438618hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3857352
hg1957352
hg1857352
hg1757352
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657607, nssv1657606
SamplesNA10863, NA12234
Known GenesABCG2
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)nsv441897
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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