A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17065498



Internal ID21434243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39234647..39234647hg38UCSC Ensembl
chr1:39700319..39700319hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5621853
Supporting Variants
SamplesHG00731
Known GenesMACF1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17065498
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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