A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14413647



Internal ID22148968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113717778..113717778hg38UCSC Ensembl
chr1:114260400..114260400hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38173990
hg19173990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3541577
Supporting Variants
SamplesHG00514
Known GenesPHTF1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14413647
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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