A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18030212



Internal ID20597252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56113659..56114139hg38UCSC Ensembl
chr16:56147571..56148051hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38481
hg19481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6497713
Supporting Variants
Samples
Known GenesLOC283856
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18030212
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00055


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