A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459472



Internal ID15172851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22347473..22785096hg38UCSC Ensembl
Innerchr22:22701823..23127585hg19UCSC Ensembl
Innerchr22:21031823..21457585hg18UCSC Ensembl
Innerchr22:21026377..21452139hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38437624
hg19425763
hg18425763
hg17425763
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv551n27
Supporting Variantsnssv536209
SamplesHGDP01203
Known GenesGGTLC2, LOC648691, 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)nsv459472
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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