A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6494602



Internal ID21152155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77308158..77309880hg38UCSC Ensembl
chr14:77774501..77776223hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381723
hg191723
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18021223
Samples
Known GenesPOMT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6494602
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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