A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548382



Internal ID322141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:68238792..68238799hg38UCSC Ensembl
chr7:67703779..67703786hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16997715
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548382
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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