A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442012



Internal ID15500731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:146889545..146898681hg38UCSC Ensembl
Innerchr6:147210681..147219817hg19UCSC Ensembl
Innerchr6:147252374..147261510hg18UCSC Ensembl
Innerchr6:147252374..147261510hg17UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg389137
hg199137
hg189137
hg179137
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658185, nssv1658184, nssv1658186
SamplesNA19003, NA18943, NA18987
Known GenesSTXBP5-AS1
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)nsv442012
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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