A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1659562



Internal ID15482942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:92243152..92253538hg38UCSC Ensembl
Innerchr12:92636928..92647314hg19UCSC Ensembl
Innerchr12:91161059..91171445hg18UCSC Ensembl
Innerchr12:91139396..91149782hg17UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3810387
hg1910387
hg1810387
hg1710387
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442283
Supporting Variants
SamplesNA18913
Known Genes
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)nssv1659562
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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