A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6385051



Internal ID21042604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40720448..40726442hg38UCSC Ensembl
chr5:40720550..40726544hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg385995
hg195995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18131510
Samples
Known GenesTTC33
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6385051
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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