A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16281629



Internal ID20490847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189841823..189841823hg38UCSC Ensembl
chr2:190706549..190706549hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4757515
Supporting Variants
Samples
Known GenesPMS1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16281629
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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