A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17061923



Internal ID21449865
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 StatusS
Merged Variantsnsv5617073
Supporting Variants
SamplesHG01114
Known GenesDNM3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17061923
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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