A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1656899



Internal ID15128259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225471515..225496494hg38UCSC Ensembl
Innerchr1:225659217..225684196hg19UCSC Ensembl
Innerchr1:223725840..223750819hg18UCSC Ensembl
Innerchr1:221965952..221990931hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3824980
hg1924980
hg1824980
hg1724980
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv441740
Supporting Variants
SamplesNA18555
Known GenesENAH
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)nssv1656899
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