A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3951616



Internal ID21371686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46155803..46155803hg38UCSC Ensembl
chr12:46549586..46549586hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15192440
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3951616
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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