A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202834



Internal ID20769874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25367601..25431900hg38UCSC Ensembl
chr1:25694092..25758391hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3864300
hg1964300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333935
Supporting Variants
Samples
Known GenesRHCE, TMEM57
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202834
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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