A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187474



Internal ID20754514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47983720..48159925hg38UCSC Ensembl
chr16:48017631..48193836hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38176206
hg19176206
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6505481
Supporting Variants
Samples
Known GenesABCC12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187474
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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