A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5590218



Internal ID21538787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95235295..95235421hg38UCSC Ensembl
chr12:95629071..95629197hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17095024
SamplesHG00512
Known GenesVEZT
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5590218
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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