A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17146758



Internal ID21421935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6616678..6616678hg38UCSC Ensembl
chr5:6616791..6616791hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5629166
Supporting Variants
SamplesHG00731
Known GenesNSUN2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17146758
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