A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551166



Internal ID324646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219357195..219357195hg38UCSC Ensembl
chr1:219530537..219530537hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897147
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551166
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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