A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17042134



Internal ID95796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2990284..2990298hg38UCSC Ensembl
chr11:3011514..3011528hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5399267
Supporting Variants
Samples
Known GenesNAP1L4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17042134
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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