A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17426548



Internal ID22484418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13389974..13390041hg38UCSC Ensembl
chr6:13390206..13390273hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5903545
Supporting Variants
Samples
Known GenesGFOD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17426548
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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