A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546770



Internal ID22415752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:124468714..124468714hg38UCSC Ensembl
chr10:126157283..126157283hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg381489
hg191489
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14415277
SamplesHG00514
Known GenesLHPP
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3546770
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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