A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1619007



Internal ID15463152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169264736..169272528hg38UCSC Ensembl
Innerchr1:169233974..169241766hg19UCSC Ensembl
Innerchr1:167500598..167508390hg18UCSC Ensembl
Innerchr1:165965632..165973424hg17UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg387793
hg197793
hg187793
hg177793
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442352
Supporting Variants
SamplesNA12003
Known GenesNME7
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)nssv1619007
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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