A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442016



Internal ID15500735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:154642532..154650798hg38UCSC Ensembl
Innerchr6:154963666..154971932hg19UCSC Ensembl
Innerchr6:155005358..155013624hg18UCSC Ensembl
Innerchr6:155055779..155064045hg17UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg388267
hg198267
hg188267
hg178267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658199, nssv1658197, nssv1658201, nssv1658202, nssv1658200, nssv1658198
SamplesNA11829, NA07357, NA07019, NA07022, NA12144, NA07056
Known Genes
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)nsv442016
Frequency
Sample Size270
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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