A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16951042



Internal ID34722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53395097..53395148hg38UCSC Ensembl
chr4:54261264..54261315hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5407194
Supporting Variants
Samples
Known GenesFIP1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16951042
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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