A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14414510



Internal ID22149935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243845405..243849760hg38UCSC Ensembl
chr1:244008707..244013062hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg384356
hg194356
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3177865
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14414510
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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