A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555886



Internal ID329035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47090974..47331426hg38UCSC Ensembl
chr18:44617345..44857797hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38240453
hg19240453
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717937
Samples
Known GenesHDHD2, IER3IP1, KATNAL2, SKOR2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555886
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer