A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557094



Internal ID330207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:173937498..173937544hg38UCSC Ensembl
chr4:174858649..174858695hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg383221
hg193221
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16959311
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557094
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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