A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462442



Internal ID6043991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:125921768..126089190hg19UCSC Ensembl
Innerchr5:125949667..126117089hg18UCSC Ensembl
Innerchr5:125949667..126117089hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv538606
SamplesHGDP01194
Known GenesALDH7A1, C5orf48, PHAX
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)nsv462442
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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