A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18196306



Internal ID20763346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50664734..50689139hg38UCSC Ensembl
chr14:51131452..51155857hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3824406
hg1924406
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6476306
Supporting Variants
Samples
Known GenesSAV1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18196306
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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