A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939564



Internal ID22714959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73487523..73496084hg38UCSC Ensembl
chr14:73954228..73962788hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg388562
hg198561
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387727
Samples
Known GenesC14orf169, HEATR4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939564
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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