A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16903042



Internal ID2843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56671600..56671651hg38UCSC Ensembl
chr1:57137273..57137324hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401633
Supporting Variants
Samples
Known GenesPRKAA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16903042
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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