A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563930



Internal ID336855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42631937..42631988hg38UCSC Ensembl
chr5:42632039..42632090hg19UCSC Ensembl
Cytoband5p12
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 Variantsnssv16967633
Samples
Known GenesGHR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563930
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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