A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6494098



Internal ID21151651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45152082..45286978hg38UCSC Ensembl
chr14:45621285..45756181hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38134897
hg19134897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18018741
Samples
Known GenesFANCM, MIS18BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6494098
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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