A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458024



Internal ID15171403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:9558242..9828451hg38UCSC Ensembl
Innerchr18:9558240..9828448hg19UCSC Ensembl
Innerchr18:9548240..9818448hg18UCSC Ensembl
Innerchr18:9548240..9818448hg17UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38270210
hg19270209
hg18270209
hg17270209
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535089
Samples1782681555_A
Known GenesPPP4R1, RAB31
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)nsv458024
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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