A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458865



Internal ID15172244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:9433786..9457525hg38UCSC Ensembl
Innerchr20:9414433..9438172hg19UCSC Ensembl
Innerchr20:9362433..9386172hg18UCSC Ensembl
Innerchr20:9362433..9386172hg17UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg3823740
hg1923740
hg1823740
hg1723740
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535737
SamplesHGDP00900
Known GenesPLCB4
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)nsv458865
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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