A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969304



Internal ID46857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125408412..125408441hg38UCSC Ensembl
chr6:125729558..125729587hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5542509
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969304
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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