A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16937604



Internal ID25784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126185579..126185630hg38UCSC Ensembl
chr3:125904422..125904473hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5410890
Supporting Variants
Samples
Known GenesALDH1L1-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16937604
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01561


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