A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17366430



Internal ID22592099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1251987..1252086hg38UCSC Ensembl
chr11:1273217..1273316hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5925782
Supporting Variants
Samples
Known GenesMUC5B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17366430
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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