A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537045



Internal ID15508689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:24925277..25030125hg38UCSC Ensembl
Innerchr3:24966768..25071616hg19UCSC Ensembl
Innerchr3:24941772..25046620hg18UCSC Ensembl
Innerchr3:24941772..25046620hg17UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg38104849
hg19104849
hg18104849
hg17104849
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460482
Supporting Variants
SamplesHGDP00884
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)nssv537045
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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