A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202412



Internal ID20769452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235123261..235131348hg38UCSC Ensembl
chr1:235286576..235294663hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg388088
hg198088
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6315876
Supporting Variants
Samples
Known GenesRBM34, SNORA14B, TOMM20
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202412
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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