A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536065



Internal ID15165496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43087910..43149043hg38UCSC Ensembl
Innerchr21:44508020..44569153hg19UCSC Ensembl
Innerchr21:43381089..43442222hg18UCSC Ensembl
Innerchr21:43381089..43442222hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3861134
hg1961134
hg1861134
hg1761134
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459279
Supporting Variants
SamplesNINDS_210
Known GenesU2AF1
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)nssv536065
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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