A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202735



Internal ID22351854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76120430..76123576hg38UCSC Ensembl
chr12:76514210..76517356hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg383147
hg193147
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1908n152
Supporting Variantsnssv14447849
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)nsv3202735
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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