A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536157



Internal ID15165434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21982115..22208677hg38UCSC Ensembl
Innerchr22:22336512..22563068hg19UCSC Ensembl
Innerchr22:20666512..20893068hg18UCSC Ensembl
Innerchr22:20661066..20887622hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38226563
hg19226557
hg18226557
hg17226557
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459416
Supporting Variants
SamplesNINDS_202
Known GenesTOP3B
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)nssv536157
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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