A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6480093



Internal ID21137646
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 StatusM
Merged Variants
Supporting Variantsnssv18194596
Samples
Known GenesMAP4K5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6480093
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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