A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412634



Internal ID191936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162791518..162791518hg38UCSC Ensembl
chr1:162761308..162761308hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891518
Samples
Known GenesHSD17B7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412634
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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