A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6498830



Internal ID20872043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:5082067..5094387hg38UCSC Ensembl
chr16:5132068..5144388hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3812321
hg1912321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18191341
Samples
Known GenesALG1, FAM86A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6498830
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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