A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912834



Internal ID9304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55580401..55580452hg38UCSC Ensembl
chr2:55807537..55807588hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38508
hg19508
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557168
Supporting Variants
Samples
Known GenesSMEK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912834
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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