A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442466



Internal ID15154499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45347447..45388666hg38UCSC Ensembl
Innerchr19:45850705..45891924hg19UCSC Ensembl
Innerchr19:50542545..50583764hg18UCSC Ensembl
Innerchr19:50542545..50583764hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3841220
hg1941220
hg1841220
hg1741220
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1660462, nssv1660464, nssv1660463
SamplesNA10863, NA07357, NA12234
Known GenesERCC2, KLC3, PPP1R13L
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)nsv442466
Frequency
Sample Size270
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer