A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280685



Internal ID22378999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7864892..7865284hg38UCSC Ensembl
chr1:7924952..7925344hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv93n152
Supporting Variantsnssv14382579
SamplesNA19240
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)nsv3280685
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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