A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478138



Internal ID21135691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23010001..23010500hg38UCSC Ensembl
chr14:23479210..23479709hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18016721
Samples
Known GenesC14orf93
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478138
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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