A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17110877



Internal ID21479833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188997014..188997014hg38UCSC Ensembl
chr2:189861740..189861740hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5604686
Supporting Variants
SamplesHG03486
Known GenesCOL3A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17110877
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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