A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1648440



Internal ID15130644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18583078..18666789hg38UCSC Ensembl
Innerchr16:18594400..18678111hg19UCSC Ensembl
Innerchr16:18501901..18585612hg18UCSC Ensembl
Innerchr16:18501901..18585612hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3883712
hg1983712
hg1883712
hg1783712
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442712
Supporting Variants
SamplesNA18592
Known GenesABCC6P1
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)nssv1648440
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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