A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6399867



Internal ID21057420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75503830..75503892hg38UCSC Ensembl
chr5:74799655..74799717hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18216365
Samples
Known GenesCOL4A3BP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6399867
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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