A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5572400



Internal ID21520789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48732502..48732551hg38UCSC Ensembl
chr1:49198174..49198223hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065567
SamplesNA19983
Known GenesAGBL4, BEND5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5572400
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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