A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467371



Internal ID15180750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:71302291..71340509hg38UCSC Ensembl
Innerchr10:73062048..73100266hg19UCSC Ensembl
Innerchr10:72732054..72770272hg18UCSC Ensembl
Innerchr10:72732054..72770272hg17UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3838219
hg1938219
hg1838219
hg1738219
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542685
Samples1782681092_A
Known GenesSLC29A3, UNC5B
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)nsv467371
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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