A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6030029



Internal ID21939372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:65869190..65872398hg38UCSC Ensembl
chr12:66262970..66266178hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg383209
hg193209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17607782
Samples
Known GenesHMGA2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6030029
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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