A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537241



Internal ID15510659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:18567098..18582371hg38UCSC Ensembl
Innerchr1:18893592..18908865hg19UCSC Ensembl
Innerchr1:18766179..18781452hg18UCSC Ensembl
Innerchr1:18638898..18654171hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3815274
hg1915274
hg1815274
hg1715274
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460706
Supporting Variants
SamplesHGDP01278
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)nssv537241
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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