A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1656679



Internal ID15126281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:77309187..77314147hg38UCSC Ensembl
Innerchr1:77774872..77779832hg19UCSC Ensembl
Innerchr1:77547460..77552420hg18UCSC Ensembl
Innerchr1:77486893..77491853hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384961
hg194961
hg184961
hg174961
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv441697
Supporting Variants
SamplesNA18523
Known GenesAK5
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)nssv1656679
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