A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458777



Internal ID15518842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53429042..53519471hg38UCSC Ensembl
Innerchr19:53932295..54022725hg19UCSC Ensembl
Innerchr19:58624107..58714537hg18UCSC Ensembl
Innerchr19:58624107..58714537hg17UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3890430
hg1990431
hg1890431
hg1790431
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv431n27
Supporting Variantsnssv535679
Samples1780854480_A
Known GenesTPM3P9, ZNF761, ZNF813
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)nsv458777
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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