A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458013



Internal ID15171392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3188978..3216304hg38UCSC Ensembl
Innerchr18:3188976..3216302hg19UCSC Ensembl
Innerchr18:3178976..3206302hg18UCSC Ensembl
Innerchr18:3178976..3206302hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3827327
hg1927327
hg1827327
hg1727327
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535082
SamplesHGDP00637
Known GenesMYOM1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv458013
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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