A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3954383



Internal ID21374453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17252362..17252362hg38UCSC Ensembl
chr17:17155676..17155676hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15184871
SamplesHG002
Known GenesCOPS3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3954383
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