A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6089949



Internal ID21999182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2908346..2908346hg38UCSC Ensembl
chr12:3017512..3017512hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17605759
Samples
Known GenesTULP3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6089949
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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