A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1617279



Internal ID15497891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1696479..1741164hg38UCSC Ensembl
Innerchr1:1627918..1672603hg19UCSC Ensembl
Innerchr1:1617778..1662463hg18UCSC Ensembl
Innerchr1:1660080..1704765hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3844686
hg1944686
hg1844686
hg1744686
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442858
Supporting Variants
SamplesNA19204
Known GenesCDK11A, CDK11B, MMP23A, SLC35E2
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)nssv1617279
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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