A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458967



Internal ID15519032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:37326534..37439471hg38UCSC Ensembl
Innerchr20:35954937..36067873hg19UCSC Ensembl
Innerchr20:35388351..35501287hg18UCSC Ensembl
Innerchr20:35388351..35501287hg17UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38112938
hg19112937
hg18112937
hg17112937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535818
SamplesHGDP00715
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)nsv458967
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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