A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287947



Internal ID22386354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62629323..62629395hg38UCSC Ensembl
chr12:63023103..63023175hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1878n152
Supporting Variantsnssv14447782
SamplesHG00733
Known Genes
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)nsv3287947
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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