A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5623409



Internal ID21571714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:164773527..164773527hg38UCSC Ensembl
chr1:164742764..164742764hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061533
SamplesNA20509
Known GenesLOC100505795, PBX1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5623409
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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