A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15192449



Internal ID21331327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47940860..47940860hg38UCSC Ensembl
chr12:48334643..48334643hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3953763
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15192449
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