A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6030231



Internal ID21939574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43747976..43748052hg38UCSC Ensembl
chr12:44141779..44141855hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17607826
Samples
Known GenesPUS7L
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6030231
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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