A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14458366



Internal ID22252247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:52860285..52860749hg38UCSC Ensembl
chr5:52156119..52156583hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38465
hg19465
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170708
Supporting Variants
SamplesHG00733
Known GenesITGA1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14458366
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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