A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458934



Internal ID15518999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:15757441..15791937hg38UCSC Ensembl
Innerchr20:15738086..15772582hg19UCSC Ensembl
Innerchr20:15686086..15720582hg18UCSC Ensembl
Innerchr20:15686086..15720582hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3834497
hg1934497
hg1834497
hg1734497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535788
Samples1780862459_A
Known GenesMACROD2
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)nsv458934
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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