A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539998



Internal ID15508479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152558034..152618089hg38UCSC Ensembl
Innerchr1:152530510..152590565hg19UCSC Ensembl
Innerchr1:150797134..150857189hg18UCSC Ensembl
Innerchr1:149343583..149403638hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3860056
hg1960056
hg1860056
hg1760056
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463995
Supporting Variants
SamplesHGDP00846
Known GenesLCE3B, LCE3C, LCE3D, LCE3E
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)nssv539998
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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