A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6086423



Internal ID21995656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56140393..56140393hg38UCSC Ensembl
chr12:56534177..56534177hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17614116
Samples
Known GenesESYT1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6086423
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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