A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458516



Internal ID15171895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:20651291..20804744hg38UCSC Ensembl
Innerchr19:20834097..20987550hg19UCSC Ensembl
Innerchr19:20625937..20779390hg18UCSC Ensembl
Innerchr19:20625937..20779390hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38153454
hg19153454
hg18153454
hg17153454
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv404n27
Supporting Variantsnssv535439
Samples1780862408_A
Known GenesZNF626
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)nsv458516
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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