A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18059140



Internal ID20626180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242384389..242394421hg38UCSC Ensembl
chr1:242547691..242557723hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3810033
hg1910033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325652
Supporting Variants
Samples
Known GenesPLD5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18059140
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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