A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970873



Internal ID47917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:139161032..139161032hg38UCSC Ensembl
chr6:139482169..139482169hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5551978
Supporting Variants
Samples
Known GenesHECA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970873
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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