A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1623253



Internal ID15497874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130036310..130065662hg38UCSC Ensembl
Innerchr2:130793883..130823235hg19UCSC Ensembl
Innerchr2:130510353..130539705hg18UCSC Ensembl
Innerchr2:130510113..130539465hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3829353
hg1929353
hg1829353
hg1729353
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442833
Supporting Variants
SamplesNA19203
Known GenesFAR2P1
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)nssv1623253
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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