A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282939



Internal ID22381277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67709904..67710069hg38UCSC Ensembl
chr1:68175587..68175752hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14464224
SamplesHG00733
Known GenesGNG12
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)nsv3282939
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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