A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14438910



Internal ID22232502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154935677..154935816hg38UCSC Ensembl
chr1:154908153..154908292hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3180758
Supporting Variants
SamplesHG00733
Known GenesPMVK
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14438910
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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