A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18141150



Internal ID20708190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:147296401..147300500hg38UCSC Ensembl
chr6:147617537..147621636hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6605979
Supporting Variants
Samples
Known GenesSTXBP5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18141150
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00036


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