A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6493378



Internal ID21150931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50869601..50876100hg38UCSC Ensembl
chr14:51336319..51342818hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg386500
hg196500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192756
Samples
Known GenesABHD12B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6493378
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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