A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17099295



Internal ID21445047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41453906..41453906hg38UCSC Ensembl
chr12:41847708..41847708hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5655213
Supporting Variants
SamplesHG00732
Known GenesPDZRN4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17099295
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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