A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17462925



Internal ID22520810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14503142..14505859hg38UCSC Ensembl
chr12:14656076..14658793hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg382718
hg192718
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5853374
Supporting Variants
Samples
Known GenesPLBD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17462925
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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