A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5630020



Internal ID21578325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72117121..72117121hg38UCSC Ensembl
chr5:71412948..71412948hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17157940
SamplesHG00513
Known GenesMAP1B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5630020
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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