A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18093391



Internal ID20660431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124292431..124292917hg38UCSC Ensembl
chr3:124011278..124011764hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6374871
Supporting Variants
Samples
Known GenesKALRN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18093391
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00034


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