A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3175118



Internal ID22333184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:104242387..104242544hg38UCSC Ensembl
chr1:104785009..104785166hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14430605
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3175118
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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