A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003611



Internal ID70027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131115861..131117158hg38UCSC Ensembl
chr7:130800620..130801917hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg381298
hg191298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5486821
Supporting Variants
Samples
Known GenesMKLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003611
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.005151


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