A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467220



Internal ID15527285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:54476971..54511498hg38UCSC Ensembl
Innerchr10:56236731..56271258hg19UCSC Ensembl
Innerchr10:55906737..55941264hg18UCSC Ensembl
Innerchr10:55906737..55941264hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3834528
hg1934528
hg1834528
hg1734528
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv94n27
Supporting Variantsnssv542564
Samples1782681093_A
Known GenesPCDH15
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)nsv467220
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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