A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14307676



Internal ID22265353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213791000..213791000hg38UCSC Ensembl
chr1:213964343..213964343hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561451
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14307676
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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