A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17112989



Internal ID21460781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3400283..3400283hg38UCSC Ensembl
chr2:3404054..3404054hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5611388
Supporting Variants
SamplesHG02818
Known GenesTRAPPC12
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17112989
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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