A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14414483



Internal ID22149910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240178980..240178980hg38UCSC Ensembl
chr1:240342280..240342280hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg384562
hg194562
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3541016
Supporting Variants
SamplesHG00514
Known GenesFMN2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14414483
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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