A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457444



Internal ID15170823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20917903..21160552hg38UCSC Ensembl
Innerchr16:20929225..21171873hg19UCSC Ensembl
Innerchr16:20836726..21079374hg18UCSC Ensembl
Innerchr16:20836726..21079374hg17UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38242650
hg19242649
hg18242649
hg17242649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534635
Samples1780862082_A
Known GenesDNAH3, LYRM1, TMEM159
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)nsv457444
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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