A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18129245



Internal ID20696285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180005385..180019340hg38UCSC Ensembl
chr5:179432385..179446340hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3813956
hg1913956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6401015
Supporting Variants
Samples
Known GenesMIR340, RNF130
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18129245
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