A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18052080



Internal ID20619120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155553978..155556635hg38UCSC Ensembl
chr1:155523769..155526426hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg382658
hg192658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330883
Supporting Variants
Samples
Known GenesASH1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18052080
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