A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3940950



Internal ID21361019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54726787..54726787hg38UCSC Ensembl
chr8:55639347..55639347hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15204427
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3940950
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