A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6049681



Internal ID21958914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145488076..145488076hg38UCSC Ensembl
chr1:145991693..145991693hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17537253
Samples
Known GenesLOC100288142, LOC101929780, NBPF10
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6049681
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