A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444987



Internal ID223349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221551309..221555269hg38UCSC Ensembl
chr1:221724651..221728611hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg383961
hg193961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895942
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444987
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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