A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5605378



Internal ID21553683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172657429..172657429hg38UCSC Ensembl
chr2:173522157..173522157hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17109814
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5605378
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