A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17392118



Internal ID22449988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36003152..36107398hg38UCSC Ensembl
chr21:37375450..37479696hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38104247
hg19104247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5950367
Supporting Variants
Samples
Known GenesCBR1, LOC100133286, SETD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17392118
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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