A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3946946



Internal ID21367016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32963385..32963385hg38UCSC Ensembl
chr12:33116319..33116319hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15193952
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3946946
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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