A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187558



Internal ID20754598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:58147201..58155000hg38UCSC Ensembl
chr14:58613919..58621718hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg387800
hg197800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6485167
Supporting Variants
Samples
Known GenesC14orf37
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187558
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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