A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945403



Internal ID22720880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112296689..112297425hg38UCSC Ensembl
chr12:112734493..112735229hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38737
hg19737
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369194
Samples
Known GenesHECTD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945403
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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