A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542684



Internal ID15161567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:70712016..70734402hg38UCSC Ensembl
Innerchr10:72471772..72494158hg19UCSC Ensembl
Innerchr10:72141778..72164164hg18UCSC Ensembl
Innerchr10:72141778..72164164hg17UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3822387
hg1922387
hg1822387
hg1722387
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467369
Supporting Variants
SamplesHGDP00787
Known GenesADAMTS14
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)nssv542684
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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