A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478571



Internal ID21136124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47157861..47380010hg38UCSC Ensembl
chr14:47627064..47849213hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38222150
hg19222150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18019274
Samples
Known GenesMDGA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478571
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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