A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6479499



Internal ID21137052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54606001..54608100hg38UCSC Ensembl
chr14:55072719..55074818hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18020228
Samples
Known GenesSAMD4A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6479499
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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