A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5616078



Internal ID21564383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113979920..113979920hg38UCSC Ensembl
chr2:114737497..114737497hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108074
SamplesHG00731
Known GenesLOC100499194, LOC440900
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5616078
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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