A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459506



Internal ID15172885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22381922..22866340hg38UCSC Ensembl
Innerchr22:22736291..23208519hg19UCSC Ensembl
Innerchr22:21066291..21538519hg18UCSC Ensembl
Innerchr22:21060845..21533073hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38484419
hg19472229
hg18472229
hg17472229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv551n27
Supporting Variantsnssv536242
SamplesHGDP01238
Known GenesGGTLC2, LOC648691, MIR650, POM121L1P, PRAME, 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)nsv459506
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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