A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17428247



Internal ID22486117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55105988..55106261hg38UCSC Ensembl
chr5:54401816..54402089hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5897127
Supporting Variants
Samples
Known GenesGZMA
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17428247
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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