A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969359



Internal ID22744294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62486255..62486255hg38UCSC Ensembl
chr12:62880035..62880035hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17357999
Samples
Known GenesMON2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969359
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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