A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18061790



Internal ID20628830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:49452847..49453485hg38UCSC Ensembl
chr1:49918519..49919157hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38639
hg19639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6320409
Supporting Variants
Samples
Known GenesAGBL4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18061790
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00018


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