A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14454863



Internal ID22249388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61213320..61217663hg38UCSC Ensembl
chr8:62125879..62130222hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg384344
hg194344
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3189819
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)nssv14454863
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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