A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459421



Internal ID15172800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21982115..22568655hg38UCSC Ensembl
Innerchr22:22336512..22911060hg19UCSC Ensembl
Innerchr22:20666512..21241060hg18UCSC Ensembl
Innerchr22:20661066..21235614hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38586541
hg19574549
hg18574549
hg17574549
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536158
SamplesNINDS_272
Known GenesBMS1P20, LOC648691, PRAME, TOP3B, VPREB1, ZNF280A, ZNF280B
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)nsv459421
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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