A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533424



Internal ID15502558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:76036425..76088787hg38UCSC Ensembl
Innerchr13:76610561..76662923hg19UCSC Ensembl
Innerchr13:75508562..75560924hg18UCSC Ensembl
Innerchr13:75508562..75560924hg17UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg3852363
hg1952363
hg1852363
hg1752363
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455988
Supporting Variants
Samples1780854449_A
Known Genes
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)nssv533424
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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