A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442182



Internal ID15500901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50631696..50634068hg38UCSC Ensembl
Innerchr10:52391456..52393828hg19UCSC Ensembl
Innerchr10:52061462..52063834hg18UCSC Ensembl
Innerchr10:52061462..52063834hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg382373
hg192373
hg182373
hg172373
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659064, nssv1659061, nssv1659058, nssv1659056, nssv1659057, nssv1659060, nssv1659059, nssv1659062, nssv1659063, nssv1659055
SamplesNA18855, NA18870, NA19209, NA19194, NA18912, NA18857, NA19193, NA18501, NA19211, NA19116
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)nsv442182
Frequency
Sample Size270
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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