A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6378434



Internal ID21035987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:35715975..35726952hg38UCSC Ensembl
chr5:35716077..35727054hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3810978
hg1910978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213411
Samples
Known GenesSPEF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6378434
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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