A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6086594



Internal ID21995827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23970841..23970841hg38UCSC Ensembl
chr12:24123775..24123775hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17599384
Samples
Known GenesSOX5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6086594
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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