A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6057347



Internal ID21966580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145321005..145321005hg38UCSC Ensembl
chr1:148275018..148275018hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17530059
Samples
Known GenesLOC101929780, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6057347
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