A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571622



Internal ID16012345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20917903..21160552hg38UCSC Ensembl
Innerchr16:20929225..21171873hg19UCSC Ensembl
Innerchr16:20836726..21079374hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38242650
hg19242649
hg18242649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149623
Samples1780862082_A
Known GenesDNAH3, LYRM1, TMEM159
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571622
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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