A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970586



Internal ID47718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:91690576..91690627hg38UCSC Ensembl
chr5:90986393..90986444hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5408646
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970586
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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