A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17060510



Internal ID21448097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145300144..145301716hg38UCSC Ensembl
chr1:148255737..148257155hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg381573
hg191419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5579845
Supporting Variants
SamplesHG00733
Known GenesLOC101929780, NBPF14, NBPF8, NBPF9
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17060510
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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