A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5567747



Internal ID21516086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103667851..103762001hg38UCSC Ensembl
chr1:104210473..104304623hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3894151
hg1994151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17059699
SamplesHG02818
Known GenesAMY1A, AMY1B, AMY1C
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5567747
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