A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18088634



Internal ID20655674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44277850..44353363hg38UCSC Ensembl
chr2:44504989..44580502hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3875514
hg1975514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6336436
Supporting Variants
Samples
Known GenesPREPL, SLC3A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18088634
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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