A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1660441



Internal ID15496433
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
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442460
Supporting Variants
SamplesNA19172
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)nssv1660441
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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