A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927761



Internal ID19219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:195594823..195594857hg38UCSC Ensembl
chr2:196459547..196459581hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5549326
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927761
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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