A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543337



Internal ID317602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82695010..82695010hg38UCSC Ensembl
chr4:83616163..83616163hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16951466
Samples
Known GenesSCD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543337
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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