A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048789



Internal ID21958024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:57174946..57174946hg38UCSC Ensembl
chr1:57640619..57640619hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg381435
hg191435
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17525386
Samples
Known GenesDAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048789
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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