A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6403789



Internal ID21061342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75463863..75467174hg38UCSC Ensembl
chr5:74759688..74762999hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg383312
hg193312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18134423
Samples
Known GenesCOL4A3BP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6403789
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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