A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281285



Internal ID22379608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240562826..240563017hg38UCSC Ensembl
chr1:240726126..240726317hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv636n152
Supporting Variantsnssv14408149
SamplesNA19240
Known GenesGREM2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3281285
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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