A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114430



Internal ID21456631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53748684..53748684hg38UCSC Ensembl
chr2:53975821..53975821hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg381294
hg191294
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5612009
Supporting Variants
SamplesHG02492
Known GenesASB3, GPR75-ASB3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114430
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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