A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612931



Internal ID21561236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:7583277..7583277hg38UCSC Ensembl
chr2:7723408..7723408hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17113659
SamplesNA19239
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612931
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