A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6097436



Internal ID22006669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20385978..20385978hg38UCSC Ensembl
chr12:20538912..20538912hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17598122
Samples
Known GenesPDE3A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6097436
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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