A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204547



Internal ID22353382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:58842989..58843233hg38UCSC Ensembl
chr12:59236771..59237015hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14444163
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)nsv3204547
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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