A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442250



Internal ID15154283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:323642..434681hg38UCSC Ensembl
Innerchr12:432808..543847hg19UCSC Ensembl
Innerchr12:303069..414108hg18UCSC Ensembl
Innerchr12:303069..414108hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38111040
hg19111040
hg18111040
hg17111040
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659436, nssv1659437
SamplesNA18521, NA18522
Known GenesCCDC77, KDM5A
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)nsv442250
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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