A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558479



Internal ID331539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:71329055..71329062hg38UCSC Ensembl
chr6:72038758..72038765hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16987179
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558479
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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