A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1649780



Internal ID15464327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:74362396..74418138hg38UCSC Ensembl
Innerchr16:74396294..74452036hg19UCSC Ensembl
Innerchr16:72953795..73009537hg18UCSC Ensembl
Innerchr16:72953795..73009537hg17UCSC Ensembl
Cytoband16q22.3
Allele length
AssemblyAllele length
hg3855743
hg1955743
hg1855743
hg1755743
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442726
Supporting Variants
SamplesNA12144
Known GenesCLEC18B, LOC283922
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)nssv1649780
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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