A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458724



Internal ID15172103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51422265..51472469hg38UCSC Ensembl
Innerchr19:51925519..51975723hg19UCSC Ensembl
Innerchr19:56617331..56667535hg18UCSC Ensembl
Innerchr19:56617331..56667535hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3850205
hg1950205
hg1850205
hg1750205
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535634
SamplesHGDP01047
Known GenesSIGLEC8
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)nsv458724
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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