A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17148481



Internal ID21453723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:8022558..8022882hg38UCSC Ensembl
chr6:8022791..8023115hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5570578
Supporting Variants
SamplesHG02011
Known GenesBLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17148481
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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