A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18084383



Internal ID20651423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203473243..203480505hg38UCSC Ensembl
chr2:204337966..204345228hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg387263
hg197263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6350586
Supporting Variants
Samples
Known GenesRAPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18084383
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