A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17452130



Internal ID22510002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54598713..54601812hg38UCSC Ensembl
chr12:54992497..54995596hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5864048
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17452130
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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