A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442460



Internal ID15501179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39884180..39890891hg38UCSC Ensembl
Innerchr19:40374820..40381531hg19UCSC Ensembl
Innerchr19:45066660..45073371hg18UCSC Ensembl
Innerchr19:45066660..45073371hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg386712
hg196712
hg186712
hg176712
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1660440, nssv1660444, nssv1660439, nssv1660442, nssv1660441, nssv1660438, nssv1660436, nssv1660443, nssv1660435, nssv1660434, nssv1660437
SamplesNA11830, NA18947, NA18940, NA19130, NA18970, NA19172, NA19200, NA19202, NA19132, NA18994, NA18872
Known GenesFCGBP
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)nsv442460
Frequency
Sample Size270
Observed Gain10
Observed Loss1
Observed Complex0
Frequencyn/a


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