A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543915



Internal ID318124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30471072..30471072hg38UCSC Ensembl
chr7:30510688..30510688hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995089
Samples
Known GenesNOD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543915
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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