A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3550742



Internal ID22419664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:27745188..27745188hg38UCSC Ensembl
chr10:28034117..28034117hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg381029
hg191029
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14414998
SamplesHG00514
Known GenesMKX
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3550742
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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