A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458141



Internal ID6049314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71707208..71716494hg19UCSC Ensembl
Innerchr2:71560716..71570002hg18UCSC Ensembl
Innerchr2:71618863..71628149hg17UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv535161
SamplesNINDS_65
Known GenesDYSF
MethodSNP_genotyping_analysis
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 Provided
Comments
ReferenceItsara et al 2009
Pubmed ID19166990
Accession Number(s)nsv458141
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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