A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536084



Internal ID15160919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45495128..45517044hg38UCSC Ensembl
Innerchr21:46915042..46936958hg19UCSC Ensembl
Innerchr21:45739470..45761386hg18UCSC Ensembl
Innerchr21:45739470..45761386hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3821917
hg1921917
hg1821917
hg1721917
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459308
Supporting Variants
SamplesHGDP00684
Known GenesCOL18A1, SLC19A1
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)nssv536084
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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