A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5646427



Internal ID21594732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75705789..75705789hg38UCSC Ensembl
chr13:76279925..76279925hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg386112
hg196112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17084209
SamplesNA19238
Known GenesLMO7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5646427
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