A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5650119



Internal ID21598424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5902636..5902636hg38UCSC Ensembl
chr12:6011802..6011802hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17084250
SamplesHG01596
Known GenesANO2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5650119
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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