A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18117407



Internal ID20684447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53360801..53366300hg38UCSC Ensembl
chr4:54226968..54232467hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6395103
Supporting Variants
Samples
Known GenesSCFD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18117407
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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