A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536047



Internal ID15162850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36003345..36087866hg38UCSC Ensembl
Innerchr21:37375643..37460164hg19UCSC Ensembl
Innerchr21:36297513..36382034hg18UCSC Ensembl
Innerchr21:36297513..36382034hg17UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg3884522
hg1984522
hg1884522
hg1784522
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459247
Supporting Variants
SamplesHGDP01029
Known GenesCBR1, LOC100133286, SETD4
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)nssv536047
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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