A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458844



Internal ID15172223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:599013..614136hg38UCSC Ensembl
Innerchr20:579657..594780hg19UCSC Ensembl
Innerchr20:527657..542780hg18UCSC Ensembl
Innerchr20:527657..542780hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3815124
hg1915124
hg1815124
hg1715124
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535725
Samples1780862574_A
Known GenesTCF15
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)nsv458844
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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