A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16924827



Internal ID17294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210183169..210183220hg38UCSC Ensembl
chr2:211047893..211047944hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560352
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16924827
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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