A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442252



Internal ID15500971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6428329..6474240hg38UCSC Ensembl
Innerchr12:6537495..6583406hg19UCSC Ensembl
Innerchr12:6407756..6453667hg18UCSC Ensembl
Innerchr12:6407756..6453667hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3845912
hg1945912
hg1845912
hg1745912
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659441, nssv1659440
SamplesNA19172, NA19173
Known GenesCD27, CD27-AS1, TAPBPL, VAMP1
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)nsv442252
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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