A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504143



Internal ID280952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113200696..113200773hg38UCSC Ensembl
chr13:113855010..113855087hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693806
Samples
Known GenesPCID2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504143
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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