A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14420250



Internal ID22157761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105054591..105054692hg38UCSC Ensembl
chr2:105671049..105671150hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3173540
Supporting Variants
SamplesHG00514
Known GenesMRPS9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14420250
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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