A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14447503



Internal ID22243088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27539844..27540012hg38UCSC Ensembl
chr2:27762711..27762879hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3177999
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)nssv14447503
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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