A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481829



Internal ID259295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:65946389..66001000hg38UCSC Ensembl
chr7:65411376..65465987hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3854612
hg1954612
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16997606
Samples
Known GenesGUSB, VKORC1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481829
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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