A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5582546



Internal ID21531060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240562830..240563019hg38UCSC Ensembl
chr1:240726130..240726319hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063795
SamplesNA19238
Known GenesGREM2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5582546
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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