A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18021405



Internal ID20588445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81474355..81474839hg38UCSC Ensembl
chr14:81940699..81941183hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38485
hg19485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6487452
Supporting Variants
Samples
Known GenesSEL1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18021405
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00049


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