A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146026



Internal ID345231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1771000..1821000hg38UCSC Ensembl
chr16:1821001..1871001hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3850001
hg1950001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706714
Samples
Known GenesEME2, HAGH, IGFALS, MRPS34, NME3, NUBP2, SPSB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146026
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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