A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5644728



Internal ID21593033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120244060..120244060hg38UCSC Ensembl
chr11:120114769..120114769hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17072894
SamplesHG02587
Known GenesPOU2F3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5644728
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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