A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535924



Internal ID15504950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13776312..13843493hg38UCSC Ensembl
Innerchr21:15148633..15215814hg19UCSC Ensembl
Innerchr21:14070504..14137685hg18UCSC Ensembl
Innerchr21:14070504..14137685hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3867182
hg1967182
hg1867182
hg1767182
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459094
Supporting Variants
SamplesHGDP00007
Known GenesC21orf15
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)nssv535924
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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