A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15192022



Internal ID21330887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92473119..92473119hg38UCSC Ensembl
chr12:92866895..92866895hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3939707
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15192022
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