A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5642131



Internal ID21590436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44181727..44181727hg38UCSC Ensembl
chr6:44149464..44149464hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17146465
SamplesNA19239
Known GenesCAPN11
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5642131
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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