A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17460080



Internal ID22517966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14641748..14646417hg38UCSC Ensembl
chr12:14794682..14799351hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg384670
hg194670
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5861738
Supporting Variants
Samples
Known GenesGUCY2C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17460080
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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