A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17110951



Internal ID21465560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190690012..190690012hg38UCSC Ensembl
chr2:191554738..191554738hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5615927
Supporting Variants
SamplesHG03065
Known GenesNAB1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17110951
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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