A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3954165



Internal ID21374236
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 StatusM
Merged Variants
Supporting Variantsnssv15186199
SamplesHG002
Known GenesPMS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3954165
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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