A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458916



Internal ID15172295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14868013..14986860hg38UCSC Ensembl
Innerchr20:14848659..14967506hg19UCSC Ensembl
Innerchr20:14796659..14915506hg18UCSC Ensembl
Innerchr20:14796659..14915506hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38118848
hg19118848
hg18118848
hg17118848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535776
SamplesNINDS_117
Known GenesMACROD2, MACROD2-AS1
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)nsv458916
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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