A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6488791



Internal ID21146344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54644220..54645004hg38UCSC Ensembl
chr14:55110938..55111722hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38785
hg19785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18020230
Samples
Known GenesSAMD4A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6488791
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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