A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459435



Internal ID15172814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22046608..22604355hg38UCSC Ensembl
Innerchr22:22401006..22946825hg19UCSC Ensembl
Innerchr22:20731006..21276825hg18UCSC Ensembl
Innerchr22:20725560..21271379hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38557748
hg19545820
hg18545820
hg17545820
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv548n27
Supporting Variantsnssv536172
SamplesHGDP00723
Known GenesBMS1P20, LOC648691, PRAME, 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)nsv459435
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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