A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5537453



Internal ID312719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61138602..61138602hg38UCSC Ensembl
chr8:62051161..62051161hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012549
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5537453
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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