A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535247



Internal ID15503145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:71183498..71241115hg38UCSC Ensembl
Innerchr18:68850734..68908351hg19UCSC Ensembl
Innerchr18:67001714..67059331hg18UCSC Ensembl
Innerchr18:67001714..67059331hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3857618
hg1957618
hg1857618
hg1757618
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458284
Supporting Variants
Samples1780862093_A
Known Genes
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)nssv535247
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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