A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18132722



Internal ID20699762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43999801..44000800hg38UCSC Ensembl
chr5:43999903..44000902hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6382271
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18132722
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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