A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5572100



Internal ID21520484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151847197..151847270hg38UCSC Ensembl
chr1:151819673..151819746hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17060800
SamplesHG03125
Known GenesTHEM5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5572100
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