A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1653472



Internal ID15497116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1580934..1613247hg38UCSC Ensembl
Innerchr20:1561580..1593893hg19UCSC Ensembl
Innerchr20:1509580..1541893hg18UCSC Ensembl
Innerchr20:1509580..1541893hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3832314
hg1932314
hg1832314
hg1732314
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442776
Supporting Variants
SamplesNA19194
Known GenesSIRPB1
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)nssv1653472
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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