A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5591174



Internal ID21539747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46587409..46597019hg38UCSC Ensembl
chr12:46981192..46990802hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg389611
hg199611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17098970
SamplesHG00864
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5591174
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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