A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18139574



Internal ID20706614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125084701..125086300hg38UCSC Ensembl
chr6:125405847..125407446hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6610307
Supporting Variants
Samples
Known GenesRNF217
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18139574
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00057


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