A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5617073



Internal ID21565378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172412530..172412530hg38UCSC Ensembl
chr1:172381670..172381670hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061923
SamplesHG01114
Known GenesDNM3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5617073
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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