A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18132347



Internal ID20699387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53309601..53314900hg38UCSC Ensembl
chr5:52605431..52610730hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg385300
hg195300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6408498
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18132347
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00067


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