A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553213



Internal ID326483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68261430..68261430hg38UCSC Ensembl
chr4:69127148..69127148hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16950480
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553213
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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