A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508383



Internal ID285073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110438159..110438235hg38UCSC Ensembl
chr13:111090506..111090582hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694163
Samples
Known GenesCOL4A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508383
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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