A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17359675



Internal ID22585344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69549013..69552462hg38UCSC Ensembl
chr12:69942793..69946242hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg383450
hg193450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5930688
Supporting Variants
Samples
Known GenesFRS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17359675
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