A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612144



Internal ID21560449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230910978..230910978hg38UCSC Ensembl
chr1:231046724..231046724hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063467
SamplesHG03371
Known GenesTTC13
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612144
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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