A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14285672



Internal ID22255425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114103332..114111739hg38UCSC Ensembl
chr1:114645954..114654361hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg388408
hg198408
Variant TypeOTHER sequence alteration
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557560
Supporting Variants
SamplesNA19238
Known GenesSYT6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14285672
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer