A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17385545



Internal ID22443415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50822283..50822283hg38UCSC Ensembl
chr18:48348653..48348653hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5972774
Supporting Variants
Samples
Known GenesMRO
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17385545
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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