A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927844



Internal ID19277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199811010..199811061hg38UCSC Ensembl
chr2:200675733..200675784hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381290
hg191290
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557528
Supporting Variants
Samples
Known GenesFTCDNL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927844
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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