A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18019372



Internal ID20586412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:53953401..53953800hg38UCSC Ensembl
chr14:54420119..54420518hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492120
Supporting Variants
Samples
Known GenesBMP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18019372
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.06524


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