A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18117389



Internal ID20684429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53138151..53162109hg38UCSC Ensembl
chr4:54004318..54028276hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3823959
hg1923959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6383128
Supporting Variants
Samples
Known GenesSCFD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18117389
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