A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441681



Internal ID15153714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:14949988..14952800hg38UCSC Ensembl
Innerchr1:15276484..15279296hg19UCSC Ensembl
Innerchr1:15149071..15151883hg18UCSC Ensembl
Innerchr1:15021790..15024602hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg382813
hg192813
hg182813
hg172813
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1656586, nssv1656587, nssv1656585
SamplesNA18914, NA19099, NA18913
Known GenesKAZN
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)nsv441681
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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