A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17147070



Internal ID21504378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60567703..60567703hg38UCSC Ensembl
chr8:61480262..61480262hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381883
hg191883
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5629772
Supporting Variants
SamplesNA19239
Known GenesRAB2A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17147070
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