A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5609346



Internal ID21557651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41049362..41049362hg38UCSC Ensembl
chr4:41051379..41051379hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17139371
SamplesHG00512
Known GenesAPBB2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5609346
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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