A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467454



Internal ID15180833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:110322242..110575998hg38UCSC Ensembl
Innerchr10:112082000..112335756hg19UCSC Ensembl
Innerchr10:112071990..112325746hg18UCSC Ensembl
Innerchr10:112071990..112325746hg17UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38253757
hg19253757
hg18253757
hg17253757
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542743
Samples1780862435_A
Known GenesDUSP5, SMC3
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)nsv467454
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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