A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17107441



Internal ID21481303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10399445..10399445hg38UCSC Ensembl
chr2:10539571..10539571hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5624119
Supporting Variants
SamplesHG03683
Known GenesHPCAL1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17107441
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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