A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222746



Internal ID22366723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48604548..48604646hg38UCSC Ensembl
chr16:48638459..48638557hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14374817
SamplesNA19239
Known GenesN4BP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222746
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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