A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14455507



Internal ID22249913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44180492..44183265hg38UCSC Ensembl
chr6:44148229..44151002hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg382774
hg192774
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3173995
Supporting Variants
SamplesHG00733
Known GenesCAPN11
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14455507
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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