A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18132211



Internal ID20699251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73941344..73941847hg38UCSC Ensembl
chr5:73237169..73237672hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6401707
Supporting Variants
Samples
Known GenesARHGEF28
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18132211
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00066


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