A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536153



Internal ID15165743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960940..22219245hg38UCSC Ensembl
Innerchr22:22315312..22573637hg19UCSC Ensembl
Innerchr22:20645312..20903637hg18UCSC Ensembl
Innerchr22:20639866..20898191hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38258306
hg19258326
hg18258326
hg17258326
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459408
Supporting Variants
SamplesNINDS_247
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)nssv536153
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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