A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3949104



Internal ID21369173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57969305..57969305hg38UCSC Ensembl
chr17:56046666..56046666hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38720
hg19720
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15184421
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3949104
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