A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1641251



Internal ID15120684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:76497303..76500827hg38UCSC Ensembl
Innerchr10:78257061..78260585hg19UCSC Ensembl
Innerchr10:77927067..77930591hg18UCSC Ensembl
Innerchr10:77927067..77930591hg17UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg383525
hg193525
hg183525
hg173525
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442585
Supporting Variants
SamplesNA12753
Known GenesC10orf11
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)nssv1641251
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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