A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467473



Internal ID15180852
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542761
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)nsv467473
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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