A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16947083



Internal ID32085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:25750833..25750884hg38UCSC Ensembl
chr4:25752455..25752506hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5396008
Supporting Variants
Samples
Known GenesSEL1L3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16947083
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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