A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974222



Internal ID22749157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41453906..41453906hg38UCSC Ensembl
chr12:41847708..41847708hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365497
Samples
Known GenesPDZRN4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974222
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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