A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6487492



Internal ID21145045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51519611..51522601hg38UCSC Ensembl
chr14:51986329..51989319hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg382991
hg192991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18019147
Samples
Known GenesFRMD6, FRMD6-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6487492
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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