A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5617755



Internal ID21566060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232576916..232576916hg38UCSC Ensembl
chr1:232712662..232712662hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062923
SamplesHG02011
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5617755
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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