A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3945683



Internal ID21365753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127666454..127666454hg38UCSC Ensembl
chr2:128424028..128424028hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15187913
SamplesHG002
Known GenesLIMS2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3945683
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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