A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536241



Internal ID15164836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22381922..22833527hg38UCSC Ensembl
Innerchr22:22736291..23175703hg19UCSC Ensembl
Innerchr22:21066291..21505703hg18UCSC Ensembl
Innerchr22:21060845..21500257hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38451606
hg19439413
hg18439413
hg17439413
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459505
Supporting Variants
SamplesNINDS_106
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)nssv536241
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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