A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14404901



Internal ID22311039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111414886..111414955hg38UCSC Ensembl
chr1:111957508..111957577hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3186035
Supporting Variants
SamplesNA19240
Known GenesOVGP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14404901
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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