A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441740



Internal ID15153773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225471515..225496494hg38UCSC Ensembl
Innerchr1:225659217..225684196hg19UCSC Ensembl
Innerchr1:223725840..223750819hg18UCSC Ensembl
Innerchr1:221965952..221990931hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3824980
hg1924980
hg1824980
hg1724980
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1656899, nssv1656901, nssv1656900, nssv1656902
SamplesNA18621, NA18635, NA18555, NA18564
Known GenesENAH
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)nsv441740
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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