A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16955055



Internal ID37348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:112298160..112298211hg38UCSC Ensembl
chr4:113219316..113219367hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5411090
Supporting Variants
Samples
Known GenesALPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16955055
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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