A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18031278



Internal ID20598318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66488989..66495918hg38UCSC Ensembl
chr16:66522892..66529821hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg386930
hg196930
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6499033
Supporting Variants
Samples
Known GenesBEAN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18031278
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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