A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459120



Internal ID15519185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:19475464..19520174hg38UCSC Ensembl
Innerchr21:20847781..20892490hg19UCSC Ensembl
Innerchr21:19769652..19814361hg18UCSC Ensembl
Innerchr21:19769652..19814361hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3844711
hg1944710
hg1844710
hg1744710
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv526n27
Supporting Variantsnssv535944
Samples1798860565_A
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)nsv459120
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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