A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462458



Internal ID6049245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134347956..134405982hg19UCSC Ensembl
Innerchr5:134375855..134433881hg18UCSC Ensembl
Innerchr5:134375855..134433881hg17UCSC Ensembl
Cytoband5q31.1
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 Variantsnssv538614
SamplesNINDS_60
Known GenesPITX1
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)nsv462458
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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