A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17387727



Internal ID22445597
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 StatusS
Merged Variantsnsv5939564
Supporting Variants
Samples
Known GenesC14orf169, HEATR4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17387727
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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