A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556486



Internal ID329623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:68894785..68895073hg38UCSC Ensembl
chr1:69360468..69360756hg19UCSC Ensembl
Cytoband1p31.2
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904018
Samples
Known Genes
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556486
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