A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441872



Internal ID15500591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:41455714..41464836hg38UCSC Ensembl
Innerchr4:41457731..41466853hg19UCSC Ensembl
Innerchr4:41152488..41161610hg18UCSC Ensembl
Innerchr4:41298659..41307781hg17UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg389123
hg199123
hg189123
hg179123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1657497, nssv1657498
SamplesNA10830, NA12154
Known GenesLIMCH1
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)nsv441872
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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