A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459070



Internal ID15519135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62954354..62968122hg38UCSC Ensembl
Innerchr20:61585706..61599474hg19UCSC Ensembl
Innerchr20:61056151..61069919hg18UCSC Ensembl
Innerchr20:61056151..61069919hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3813769
hg1913769
hg1813769
hg1713769
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535909
Samples1780862021_A
Known GenesSLC17A9
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)nsv459070
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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