A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193357



Internal ID20760397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14894701..15045500hg38UCSC Ensembl
chr16:14988558..15139357hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38150800
hg19150800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6504460
Supporting Variants
Samples
Known GenesLOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1, NTAN1, PDXDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193357
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.24572


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer