A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18137197



Internal ID20704237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116931100..116931600hg38UCSC Ensembl
chr6:117252263..117252763hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6601205
Supporting Variants
Samples
Known GenesRFX6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18137197
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00054


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