A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17122308



Internal ID21419529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8294667..8294667hg38UCSC Ensembl
chr4:8296394..8296394hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381148
hg191148
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5621825
Supporting Variants
SamplesHG00731
Known GenesHTRA3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17122308
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