A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535731



Internal ID15157439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2657933..2704278hg38UCSC Ensembl
Innerchr20:2638579..2684924hg19UCSC Ensembl
Innerchr20:2586579..2632924hg18UCSC Ensembl
Innerchr20:2586579..2632924hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3846346
hg1946346
hg1846346
hg1746346
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458852
Supporting Variants
Samples1780862574_A
Known GenesEBF4, IDH3B, NOP56
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)nssv535731
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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