A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17416912



Internal ID22474782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126784880..126785203hg38UCSC Ensembl
chr5:126120572..126120895hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5903413
Supporting Variants
Samples
Known GenesLMNB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17416912
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