A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193425



Internal ID20760465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:46342924..47337793hg38UCSC Ensembl
chr14:46812127..47806996hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38994870
hg19994870
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6483846
Supporting Variants
Samples
Known GenesLINC00871, MDGA2, RPL10L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193425
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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