A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6423519



Internal ID21081072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48716001..48716400hg38UCSC Ensembl
chr8:49628560..49628959hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18167758
Samples
Known GenesEFCAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6423519
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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