A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5604975



Internal ID21553280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85191043..85191043hg38UCSC Ensembl
chr2:85418166..85418166hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg382446
hg192446
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17115609
SamplesHG00731
Known GenesTCF7L1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5604975
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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