A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17991768



Internal ID20558808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46398765..46402586hg38UCSC Ensembl
chr11:46420315..46424136hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg383822
hg193822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6475529
Supporting Variants
Samples
Known GenesAMBRA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17991768
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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