A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228773



Internal ID22370849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31832768..31837221hg38UCSC Ensembl
chr16:31844089..31848542hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg384454
hg194454
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14383708
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228773
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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