A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281785



Internal ID22380112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70646638..70646807hg38UCSC Ensembl
chr1:71112321..71112490hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14430072
SamplesHG00514
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)nsv3281785
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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