A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922319



Internal ID15637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172724295..172724295hg38UCSC Ensembl
chr2:173589023..173589023hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401166
Supporting Variants
Samples
Known GenesRAPGEF4-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922319
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.117331


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