A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17060923



Internal ID21457474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12683395..12686536hg38UCSC Ensembl
chr1:12743405..12746547hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg383142
hg193143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5570595
Supporting Variants
SamplesHG02587
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17060923
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