A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194596



Internal ID20761636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50487573..50494181hg38UCSC Ensembl
chr14:50954291..50960899hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg386609
hg196609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6480093
Supporting Variants
Samples
Known GenesMAP4K5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194596
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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