A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17464140



Internal ID22522026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14518858..14525157hg38UCSC Ensembl
chr12:14671792..14678091hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg386300
hg196300
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5848701
Supporting Variants
Samples
Known GenesPLBD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17464140
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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