A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16984865



Internal ID57295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:48175161..48175161hg38UCSC Ensembl
chr6:48142897..48142897hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5541717
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16984865
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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