A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6030594



Internal ID21939937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106954411..106958424hg38UCSC Ensembl
chr11:106825137..106829150hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg384014
hg194014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17585745
Samples
Known GenesGUCY1A2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6030594
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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