A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561749



Internal ID334719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87969171..87969222hg38UCSC Ensembl
chr4:88890323..88890374hg19UCSC Ensembl
Cytoband4q22.1
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 Variantsnssv16953805
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561749
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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