A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3943571



Internal ID21363640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27062396..27062396hg38UCSC Ensembl
chr12:27215329..27215329hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15191876
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3943571
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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