A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6488965



Internal ID21146518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:53151701..53153600hg38UCSC Ensembl
chr14:53618419..53620318hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18193100
Samples
Known GenesDDHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6488965
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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