A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18059146



Internal ID20626186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242491755..242499580hg38UCSC Ensembl
chr1:242655057..242662882hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg387826
hg197826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6316951
Supporting Variants
Samples
Known GenesPLD5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18059146
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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