A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5589192



Internal ID21537756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51132298..51132370hg38UCSC Ensembl
chr12:51526081..51526153hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17095880
SamplesNA19238
Known GenesTFCP2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5589192
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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