A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6417225



Internal ID21074778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116674301..116679000hg38UCSC Ensembl
chr8:117686540..117691239hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18228237
Samples
Known GenesEIF3H
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6417225
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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