A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542669



Internal ID15156256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:66923058..66961819hg38UCSC Ensembl
Innerchr10:68682816..68721577hg19UCSC Ensembl
Innerchr10:68352822..68391583hg18UCSC Ensembl
Innerchr10:68352822..68391583hg17UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3838762
hg1938762
hg1838762
hg1738762
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467351
Supporting Variants
Samples1780862003_A
Known GenesCTNNA3, LRRTM3
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)nssv542669
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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