A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1657061



Internal ID15485330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:112704822..112721310hg38UCSC Ensembl
Innerchr2:113462399..113478887hg19UCSC Ensembl
Innerchr2:113178870..113195358hg18UCSC Ensembl
Innerchr2:113178630..113195118hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3816489
hg1916489
hg1816489
hg1716489
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv441775
Supporting Variants
SamplesNA18960
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)nssv1657061
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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