A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16979659



Internal ID53817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13282077..13282245hg38UCSC Ensembl
chr6:13282309..13282477hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456337
Supporting Variants
Samples
Known GenesLOC100130357, PHACTR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16979659
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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