A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551119



Internal ID324602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182179913..182179964hg38UCSC Ensembl
chr1:182149048..182149099hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892760
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551119
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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