A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559131



Internal ID332175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99264748..99264799hg38UCSC Ensembl
chr4:100185905..100185956hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg386010
hg196010
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16953865
Samples
Known GenesLOC100507053
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559131
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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