A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559037



Internal ID332083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220655349..220655400hg38UCSC Ensembl
chr1:220828691..220828742hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896326
Samples
Known GenesMARK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559037
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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