A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18020313



Internal ID20587353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60745572..60747141hg38UCSC Ensembl
chr14:61212290..61213859hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg381570
hg191570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6480327
Supporting Variants
Samples
Known GenesMNAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18020313
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00012


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