A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5590134



Internal ID21538703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:87781968..87782456hg38UCSC Ensembl
chr12:88175745..88176233hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38489
hg19489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17089068
SamplesHG02818
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5590134
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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