A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18061789



Internal ID20628829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:49452392..49452824hg38UCSC Ensembl
chr1:49918064..49918496hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38433
hg19433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332594
Supporting Variants
Samples
Known GenesAGBL4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18061789
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00032


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