A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17992179



Internal ID20559219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5144392..5237240hg38UCSC Ensembl
chr11:5165622..5258470hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3892849
hg1992849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6445814
Supporting Variants
Samples
Known GenesHBB, HBD, OR51V1, OR52A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17992179
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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