A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14307971



Internal ID22127461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222090176..222090176hg38UCSC Ensembl
chr1:222263518..222263518hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561628
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14307971
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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