A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6492397



Internal ID21149950
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 StatusM
Merged Variants
Supporting Variantsnssv18018746
Samples
Known GenesMIS18BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6492397
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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