A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458985



Internal ID15172364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:44706933..44779789hg38UCSC Ensembl
Innerchr20:43335574..43408430hg19UCSC Ensembl
Innerchr20:42768988..42841844hg18UCSC Ensembl
Innerchr20:42768988..42841844hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3872857
hg1972857
hg1872857
hg1772857
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535833
SamplesNINDS_91
Known GenesKCNK15, RIMS4, WISP2
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)nsv458985
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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