A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555204



Internal ID328368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67513433..67513484hg38UCSC Ensembl
chr5:66809261..66809312hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg381980
hg191980
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966679
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555204
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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