A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551978



Internal ID325395
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 StatusM
Merged Variants
Supporting Variantsnssv16970873
Samples
Known GenesHECA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551978
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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