A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17404940



Internal ID22462810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123986018..123986018hg38UCSC Ensembl
chr3:123704865..123704865hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5957309
Supporting Variants
Samples
Known GenesROPN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17404940
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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