A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6086580



Internal ID21995813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101778921..101778921hg38UCSC Ensembl
chr12:102172699..102172699hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381459
hg191459
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17614736
Samples
Known GenesGNPTAB
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6086580
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