A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536547



Internal ID15156813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:40490740..40600363hg38UCSC Ensembl
Innerchr22:40886744..40996367hg19UCSC Ensembl
Innerchr22:39216690..39326313hg18UCSC Ensembl
Innerchr22:39211244..39320867hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38109624
hg19109624
hg18109624
hg17109624
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459886
Supporting Variants
Samples1780862306_A
Known GenesMKL1
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)nssv536547
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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