A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5565150



Internal ID21513461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:96806043..96806143hg38UCSC Ensembl
chr2:97471780..97471880hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17115330
SamplesHG03486
Known GenesCNNM4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5565150
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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