A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18020231



Internal ID20587271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54711380..54711732hg38UCSC Ensembl
chr14:55178098..55178450hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6481183
Supporting Variants
Samples
Known GenesSAMD4A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18020231
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00073


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