A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442292



Internal ID15154325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123630500..123711307hg38UCSC Ensembl
Innerchr12:124115047..124195854hg19UCSC Ensembl
Innerchr12:122681000..122761807hg18UCSC Ensembl
Innerchr12:122639927..122720734hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3880808
hg1980808
hg1880808
hg1780808
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659581, nssv1659580
SamplesNA12753, NA12762
Known GenesEIF2B1, GTF2H3, TCTN2
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)nsv442292
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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