A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6475530



Internal ID21133083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14670895..14673299hg38UCSC Ensembl
chr12:14823829..14826233hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg382405
hg192405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17999541
Samples
Known GenesGUCY2C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6475530
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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