A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458299



Internal ID15518364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:75262352..75278318hg38UCSC Ensembl
Innerchr18:72974307..72990273hg19UCSC Ensembl
Innerchr18:71103295..71119261hg18UCSC Ensembl
Innerchr18:71103295..71119261hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3815967
hg1915967
hg1815967
hg1715967
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535259
SamplesHGDP00894
Known GenesTSHZ1
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)nsv458299
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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