A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542349



Internal ID15162259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46172086..46252602hg38UCSC Ensembl
Innerchr10:47543322..47623838hg19UCSC Ensembl
Innerchr10:47013328..47093844hg18UCSC Ensembl
Innerchr10:47013328..47093844hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3880517
hg1980517
hg1880517
hg1780517
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466911
Supporting Variants
SamplesHGDP00925
Known GenesANTXRLP1
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)nssv542349
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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