A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458351



Internal ID15171730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8487389..8550705hg38UCSC Ensembl
Innerchr19:8552273..8615589hg19UCSC Ensembl
Innerchr19:8458273..8521589hg18UCSC Ensembl
Innerchr19:8458273..8521589hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3863317
hg1963317
hg1863317
hg1763317
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv396n27
Supporting Variantsnssv535294
Samples1780862415_A
Known GenesHNRNPM, MYO1F, PRAM1, ZNF414
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)nsv458351
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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