A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203878



Internal ID22352822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24344601..24345850hg38UCSC Ensembl
chr1:24671091..24672340hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg381250
hg191250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv149n152
Supporting Variantsnssv14383685, nssv14445690
SamplesNA19240, HG00733
Known GenesGRHL3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203878
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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