A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17062842



Internal ID21406837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223347734..223347734hg38UCSC Ensembl
chr1:223521076..223521076hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381678
hg191678
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5610635
Supporting Variants
SamplesHG00512
Known GenesSUSD4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17062842
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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