A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441800



Internal ID15153833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:199314247..199317834hg38UCSC Ensembl
Innerchr2:200178970..200182557hg19UCSC Ensembl
Innerchr2:199887215..199890802hg18UCSC Ensembl
Innerchr2:200004476..200008063hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg383588
hg193588
hg183588
hg173588
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657185, nssv1657184, nssv1657183
SamplesNA18515, NA18502, NA19200
Known GenesSATB2
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)nsv441800
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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