A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459275



Internal ID15519340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42441930..42455624hg38UCSC Ensembl
Innerchr21:43862040..43875734hg19UCSC Ensembl
Innerchr21:42735109..42748803hg18UCSC Ensembl
Innerchr21:42735109..42748803hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3813695
hg1913695
hg1813695
hg1713695
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536061
SamplesNINDS_254
Known GenesUBASH3A
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)nsv459275
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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