A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6320336



Internal ID20853434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93168389..93169779hg38UCSC Ensembl
chr1:93633946..93635336hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381391
hg191391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18065556
Samples
Known GenesTMED5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6320336
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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