A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536062



Internal ID15164978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42714333..42738295hg38UCSC Ensembl
Innerchr21:44134443..44158405hg19UCSC Ensembl
Innerchr21:43007512..43031474hg18UCSC Ensembl
Innerchr21:43007512..43031474hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3823963
hg1923963
hg1823963
hg1723963
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459276
Supporting Variants
SamplesNINDS_127
Known GenesPDE9A
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)nssv536062
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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