A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145447



Internal ID344652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1694000..1702000hg38UCSC Ensembl
chr16:1744001..1752001hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706703
Samples
Known GenesHN1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145447
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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