A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17059989



Internal ID21485165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116606870..116606870hg38UCSC Ensembl
chr1:117149492..117149492hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg382986
hg192986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5610231
Supporting Variants
SamplesNA12329
Known GenesIGSF3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17059989
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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