A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17106528



Internal ID21426633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5996252..5996252hg38UCSC Ensembl
chr19:5996263..5996263hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5661010
Supporting Variants
SamplesHG00731
Known GenesLOC100128568, RFX2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17106528
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer