A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18133443



Internal ID20700483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79698078..79705885hg38UCSC Ensembl
chr5:78993901..79001708hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg387808
hg197808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6405096
Supporting Variants
Samples
Known GenesCMYA5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18133443
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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