A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14413684



Internal ID22149014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145308108..145309671hg38UCSC Ensembl
chr1:144207777..144209201hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381564
hg191425
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3177248
Supporting Variants
SamplesHG00514
Known GenesLOC100288142
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14413684
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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