A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542761



Internal ID15160031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:124605790..124621473hg38UCSC Ensembl
Innerchr10:126294359..126310042hg19UCSC Ensembl
Innerchr10:126284349..126300032hg18UCSC Ensembl
Innerchr10:126284349..126300032hg17UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3815684
hg1915684
hg1815684
hg1715684
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467473
Supporting Variants
SamplesHGDP00546
Known GenesFAM53B, LHPP
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)nssv542761
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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