A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17110938



Internal ID21424688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189841823..189841823hg38UCSC Ensembl
chr2:190706549..190706549hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5605033
Supporting Variants
SamplesHG00731
Known GenesPMS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17110938
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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