A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3947694



Internal ID21367763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2829907..2829907hg38UCSC Ensembl
chr12:2939073..2939073hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15193191
SamplesHG002
Known GenesNRIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3947694
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