A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458769



Internal ID15518834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53429042..53502054hg38UCSC Ensembl
Innerchr19:53932295..54005308hg19UCSC Ensembl
Innerchr19:58624107..58697120hg18UCSC Ensembl
Innerchr19:58624107..58697120hg17UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3873013
hg1973014
hg1873014
hg1773014
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv431n27
Supporting Variantsnssv535671
SamplesHGDP00699
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)nsv458769
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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