A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560054



Internal ID333070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112138174..112138225hg38UCSC Ensembl
chr6:112459376..112459427hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381309
hg191309
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16986450
Samples
Known GenesLAMA4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560054
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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