A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459069



Internal ID15172448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62929801..62968122hg38UCSC Ensembl
Innerchr20:61561153..61599474hg19UCSC Ensembl
Innerchr20:61031598..61069919hg18UCSC Ensembl
Innerchr20:61031598..61069919hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3838322
hg1938322
hg1838322
hg1738322
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535908
Samples1782681096_A
Known GenesDIDO1, GID8, SLC17A9
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)nsv459069
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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