A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18037454



Internal ID20604494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68040049..68042763hg38UCSC Ensembl
chr17:66036165..66038879hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg382715
hg192715
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6528418
Supporting Variants
Samples
Known GenesKPNA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18037454
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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