A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14457195



Internal ID22251307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68048367..68048434hg38UCSC Ensembl
chr5:67344195..67344262hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184504
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14457195
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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