A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560588



Internal ID333593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56251896..56251947hg38UCSC Ensembl
chr4:57118062..57118113hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16950136
Samples
Known GenesKIAA1211
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560588
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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