A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5577488



Internal ID21525942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:35628578..35628637hg38UCSC Ensembl
chr1:36094179..36094238hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065159
SamplesHG00513
Known GenesPSMB2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5577488
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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