A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458993



Internal ID15172372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:45842587..45880235hg38UCSC Ensembl
Innerchr20:44471226..44508874hg19UCSC Ensembl
Innerchr20:43904633..43942281hg18UCSC Ensembl
Innerchr20:43904633..43942281hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3837649
hg1937649
hg1837649
hg1737649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535841
Samples1780862380_A
Known GenesACOT8, SNX21, ZSWIM3
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)nsv458993
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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