A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6479104



Internal ID21136657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47239501..47250300hg38UCSC Ensembl
chr14:47708704..47719503hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3810800
hg1910800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2142n223
Supporting Variantsnssv18184379
Samples
Known GenesMDGA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6479104
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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