A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17601851



Internal ID21793898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14670506..14670632hg38UCSC Ensembl
chr12:14823440..14823566hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6024648
Supporting Variants
Samples
Known GenesGUCY2C
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17601851
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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