A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541500



Internal ID15506951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:103944477..104124321hg38UCSC Ensembl
Innerchr8:104956705..105136549hg19UCSC Ensembl
Innerchr8:105025881..105205725hg18UCSC Ensembl
Innerchr8:105025881..105205725hg17UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38179845
hg19179845
hg18179845
hg17179845
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465753
Supporting Variants
SamplesHGDP00580
Known GenesRIMS2
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)nssv541500
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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