A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17066066



Internal ID21444417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:68176302..68176302hg38UCSC Ensembl
chr1:68641985..68641985hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5606837
Supporting Variants
SamplesHG00732
Known GenesGNG12-AS1, WLS
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17066066
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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