A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4757271



Internal ID20533131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:136299128..136299128hg38UCSC Ensembl
chr2:137056698..137056698hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16278354
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4757271
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer