A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535249



Internal ID15503301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:71184168..71234453hg38UCSC Ensembl
Innerchr18:68851404..68901689hg19UCSC Ensembl
Innerchr18:67002384..67052669hg18UCSC Ensembl
Innerchr18:67002384..67052669hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3850286
hg1950286
hg1850286
hg1750286
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458286
Supporting Variants
Samples1780862180_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)nssv535249
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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