A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536101



Internal ID15165269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17333921..17436386hg38UCSC Ensembl
Innerchr22:17814811..17915430hg19UCSC Ensembl
Innerchr22:16194811..16295430hg18UCSC Ensembl
Innerchr22:16189365..16289984hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38102466
hg19100620
hg18100620
hg17100620
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459335
Supporting Variants
SamplesNINDS_173
Known Genes
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)nssv536101
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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