A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6508189



Internal ID20881488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1696471..1708364hg38UCSC Ensembl
chr16:1746472..1758365hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3811894
hg1911894
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188725
Samples
Known GenesHN1L, MAPK8IP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6508189
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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