A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5640170



Internal ID21588475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:72941560..72941560hg38UCSC Ensembl
chr6:73651283..73651283hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17154601
SamplesHG00732
Known GenesKCNQ5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5640170
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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