A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17987185



Internal ID20554227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118215891..118218490hg38UCSC Ensembl
chr11:118086606..118089205hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6472381
Supporting Variants
Samples
Known GenesAMICA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17987185
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00021


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