A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18018746



Internal ID20585786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45249253..45252346hg38UCSC Ensembl
chr14:45718456..45721549hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg383094
hg193094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492397
Supporting Variants
Samples
Known GenesMIS18BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18018746
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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