A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3926546



Internal ID21346616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142590757..142590757hg38UCSC Ensembl
chr2:143348326..143348326hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15187952
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3926546
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer