A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1645748



Internal ID15478436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:25636685..25652773hg38UCSC Ensembl
Innerchr13:26210823..26226911hg19UCSC Ensembl
Innerchr13:25108823..25124911hg18UCSC Ensembl
Innerchr13:25108823..25124911hg17UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3816089
hg1916089
hg1816089
hg1716089
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442665
Supporting Variants
SamplesNA18612
Known GenesATP8A2
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)nssv1645748
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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