A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442181



Internal ID15154214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:49904999..49922847hg38UCSC Ensembl
Innerchr10:51113045..51130893hg19UCSC Ensembl
Innerchr10:50783051..50800899hg18UCSC Ensembl
Innerchr10:50783051..50800899hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3817849
hg1917849
hg1817849
hg1717849
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659053, nssv1659051, nssv1659054, nssv1659052
SamplesNA19210, NA18860, NA18858, NA18974
Known GenesPARG
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)nsv442181
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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