A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5588539



Internal ID21537102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42228020..42228479hg38UCSC Ensembl
chr12:42621822..42622281hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38460
hg19460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17092037
SamplesHG00732
Known GenesYAF2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5588539
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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