A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442010



Internal ID15500729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:140066619..140069407hg38UCSC Ensembl
Innerchr6:140387756..140390544hg19UCSC Ensembl
Innerchr6:140429449..140432237hg18UCSC Ensembl
Innerchr6:140429449..140432237hg17UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg382789
hg192789
hg182789
hg172789
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658179, nssv1658176, nssv1658180, nssv1658178, nssv1658177
SamplesNA18969, NA18995, NA18605, NA18593, NA18952
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)nsv442010
Frequency
Sample Size270
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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