A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17988328



Internal ID20555368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1460501..1461100hg38UCSC Ensembl
chr11:1481731..1482330hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6444693
Supporting Variants
Samples
Known GenesBRSK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17988328
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.05969


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