A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552111



Internal ID325514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77725430..77725465hg38UCSC Ensembl
chr7:77354747..77354782hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16999117
Samples
Known GenesRSBN1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552111
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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