A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594239



Internal ID21542836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29253226..29253279hg38UCSC Ensembl
chr12:29406159..29406212hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17079374
SamplesHG02011
Known GenesFAR2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594239
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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