A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536198



Internal ID15159734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22326954..22897847hg38UCSC Ensembl
Innerchr22:22681312..23240027hg19UCSC Ensembl
Innerchr22:21011312..21570027hg18UCSC Ensembl
Innerchr22:21005866..21564581hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38570894
hg19558716
hg18558716
hg17558716
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459461
Supporting Variants
SamplesHGDP00476
Known GenesGGTLC2, IGLL5, 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)nssv536198
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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