A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6416513



Internal ID21074066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70603509..70653345hg38UCSC Ensembl
chr8:71515744..71565580hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3849837
hg1949837
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18221643
Samples
Known GenesLACTB2, LOC286190, TRAM1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6416513
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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