A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6406717



Internal ID21064270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180028869..180034375hg38UCSC Ensembl
chr5:179455869..179461375hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg385507
hg195507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18129249
Samples
Known GenesRNF130
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6406717
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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