A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145871



Internal ID345076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2884000..3004000hg38UCSC Ensembl
chr16:2934001..3054001hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38120001
hg19120001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17705374
Samples
Known GenesFLYWCH1, FLYWCH2, KREMEN2, LINC00514, PAQR4, PKMYT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145871
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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