A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125309



Internal ID20692349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137870158..137886400hg38UCSC Ensembl
chr5:137205847..137222089hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3816243
hg1916243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6406292
Supporting Variants
Samples
Known GenesMYOT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125309
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