A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536544



Internal ID15512906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:37215767..37242920hg38UCSC Ensembl
Innerchr22:37611807..37638960hg19UCSC Ensembl
Innerchr22:35941753..35968906hg18UCSC Ensembl
Innerchr22:35936307..35963460hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3827154
hg1927154
hg1827154
hg1727154
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459883
Supporting Variants
SamplesNINDS_78
Known GenesRAC2
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)nssv536544
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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