A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535940



Internal ID15508931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18755513..18778825hg38UCSC Ensembl
Innerchr21:20127831..20151143hg19UCSC Ensembl
Innerchr21:19049702..19073014hg18UCSC Ensembl
Innerchr21:19049702..19073014hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3823313
hg1923313
hg1823313
hg1723313
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459116
Supporting Variants
SamplesHGDP00920
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)nssv535940
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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