A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441697



Internal ID15153730
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1656678, nssv1656679, nssv1656681, nssv1656680
SamplesNA19141, NA18861, NA18523, NA18521
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)nsv441697
Frequency
Sample Size270
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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