A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459235



Internal ID15519300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:29917613..30181095hg38UCSC Ensembl
Innerchr21:31289931..31553413hg19UCSC Ensembl
Innerchr21:30211802..30475284hg18UCSC Ensembl
Innerchr21:30211802..30475284hg17UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38263483
hg19263483
hg18263483
hg17263483
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536040
SamplesHGDP01185
Known GenesCLDN17, GRIK1
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)nsv459235
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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