A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2792143



Internal ID21237481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41453907..41453907hg38UCSC Ensembl
chr12:41847709..41847709hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13685587
Samples
Known GenesPDZRN4
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2792143
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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