A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1624536



Internal ID15489926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:189645889..189646849hg38UCSC Ensembl
Innerchr3:189363678..189364638hg19UCSC Ensembl
Innerchr3:190846372..190847332hg18UCSC Ensembl
Innerchr3:190846380..190847340hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38961
hg19961
hg18961
hg17961
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442887
Supporting Variants
SamplesNA19005
Known GenesTP63
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)nssv1624536
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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