A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1656968



Internal ID15491693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40537027..40541762hg38UCSC Ensembl
Innerchr2:40764167..40768902hg19UCSC Ensembl
Innerchr2:40617671..40622406hg18UCSC Ensembl
Innerchr2:40675818..40680553hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg384736
hg194736
hg184736
hg174736
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv441753
Supporting Variants
SamplesNA19103
Known Genes
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)nssv1656968
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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