A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145971



Internal ID345176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2980000..2986000hg38UCSC Ensembl
chr16:3030001..3036001hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17705395
Samples
Known GenesPKMYT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145971
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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