A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558192



Internal ID331264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58718482..58718517hg38UCSC Ensembl
chr1:59184154..59184189hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903427
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558192
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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