A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478861



Internal ID21136414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57247619..57248097hg38UCSC Ensembl
chr14:57714337..57714815hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18019814
Samples
Known GenesEXOC5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478861
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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