A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14307077



Internal ID22122601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81721207..81721207hg38UCSC Ensembl
chr3:81770358..81770358hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg38437
hg19437
Variant TypeCNV line1 insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563649
Supporting Variants
SamplesHG00512
Known GenesGBE1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14307077
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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