A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441990



Internal ID15154023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31391874..31483695hg38UCSC Ensembl
Innerchr6:31359651..31451472hg19UCSC Ensembl
Innerchr6:31467630..31559451hg18UCSC Ensembl
Innerchr6:31467630..31559451hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3891822
hg1991822
hg1891822
hg1791822
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658076, nssv1658081, nssv1658080, nssv1658078, nssv1658077, nssv1658079
SamplesNA18969, NA18563, NA18620, NA18558, NA19201, NA19202
Known GenesHCG26, HCP5, MICA
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)nsv441990
Frequency
Sample Size270
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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