A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18009422



Internal ID20576462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49108527..49479445hg38UCSC Ensembl
chr13:49682663..50053581hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38370919
hg19370919
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492350
Supporting Variants
Samples
Known GenesCAB39L, CDADC1, FNDC3A, MLNR, SETDB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18009422
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