A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280664



Internal ID22378977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161281760..161281834hg38UCSC Ensembl
chr1:161251550..161251624hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv444n152
Supporting Variantsnssv14459074
SamplesHG00733
Known GenesPCP4L1
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)nsv3280664
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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