A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17393191



Internal ID22451061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100277483..100277574hg38UCSC Ensembl
chr2:100893945..100894036hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5868873
Supporting Variants
Samples
Known GenesLONRF2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17393191
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