A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1618924



Internal ID15147019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161541620..161669769hg38UCSC Ensembl
Innerchr1:161511410..161639559hg19UCSC Ensembl
Innerchr1:159778034..159906183hg18UCSC Ensembl
Innerchr1:158324465..158371226hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38128150
hg19128150
hg18128150
hg1746762
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442209
Supporting Variants
SamplesNA19138
Known GenesFCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA7
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)nssv1618924
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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