A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18054442



Internal ID20621482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184736601..184737300hg38UCSC Ensembl
chr1:184705735..184706434hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6335576
Supporting Variants
Samples
Known GenesEDEM3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18054442
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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