A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217705



Internal ID22363277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:5074950..5094301hg38UCSC Ensembl
chr16:5124951..5144302hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3819352
hg1919352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14388877
SamplesHG00732
Known GenesALG1, FAM86A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217705
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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