A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18055513



Internal ID20622553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:192639346..192639824hg38UCSC Ensembl
chr1:192608476..192608954hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6327400
Supporting Variants
Samples
Known GenesRGS13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18055513
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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