A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6056624



Internal ID21965857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10190168..10190168hg38UCSC Ensembl
chr2:10330294..10330294hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17518750
Samples
Known GenesC2orf48
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6056624
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