A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1657004



Internal ID15128450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73648672..73701759hg38UCSC Ensembl
Innerchr2:73875799..73928886hg19UCSC Ensembl
Innerchr2:73729307..73782394hg18UCSC Ensembl
Innerchr2:73787454..73840541hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3853088
hg1953088
hg1853088
hg1753088
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv441760
Supporting Variants
SamplesNA18558
Known GenesALMS1P, NAT8B
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)nssv1657004
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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