A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545943



Internal ID319943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95160520..95160554hg38UCSC Ensembl
chr5:94496224..94496258hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16972370
Samples
Known GenesMCTP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545943
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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