A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14307980



Internal ID22273507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127777012..127777012hg38UCSC Ensembl
chr3:127495855..127495855hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562733
Supporting Variants
SamplesNA19239
Known GenesMGLL
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14307980
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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