A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495060



Internal ID272184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112986124..112986243hg38UCSC Ensembl
chr13:113640438..113640557hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693782
Samples
Known GenesMCF2L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495060
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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