A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458971



Internal ID15519036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:37381254..37441251hg38UCSC Ensembl
Innerchr20:36009657..36069653hg19UCSC Ensembl
Innerchr20:35443071..35503067hg18UCSC Ensembl
Innerchr20:35443071..35503067hg17UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3859998
hg1959997
hg1859997
hg1759997
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv510n27
Supporting Variantsnssv535821
SamplesHGDP00864
Known GenesSRC
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)nsv458971
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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