A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14392270



Internal ID22288898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13526377..13526440hg38UCSC Ensembl
chr12:13679311..13679374hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210157
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14392270
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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