A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558243



Internal ID331313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103230212..103230263hg38UCSC Ensembl
chr1:103695768..103695819hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg381812
hg191812
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907589
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558243
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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