A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18061421



Internal ID20628461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44896146..44899536hg38UCSC Ensembl
chr1:45361818..45365208hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg383391
hg193391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332764
Supporting Variants
Samples
Known GenesEIF2B3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18061421
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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