A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17994200



Internal ID20561240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78476711..78486359hg38UCSC Ensembl
chr11:78187757..78197405hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg389649
hg199649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6469845
Supporting Variants
Samples
Known GenesNARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17994200
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00036


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