A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536054



Internal ID15166048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41458763..41494180hg38UCSC Ensembl
Innerchr21:42830690..42866107hg19UCSC Ensembl
Innerchr21:41752560..41787977hg18UCSC Ensembl
Innerchr21:41752560..41787977hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3835418
hg1935418
hg1835418
hg1735418
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459261
Supporting Variants
SamplesNINDS_57
Known GenesMX1, TMPRSS2
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)nssv536054
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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