A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975974



Internal ID51382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159956423..159956474hg38UCSC Ensembl
chr5:159383430..159383481hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5395311
Supporting Variants
Samples
Known GenesADRA1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975974
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.008586


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