A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281872



Internal ID22380201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70516302..70516407hg38UCSC Ensembl
chr4:71382019..71382124hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6679n152
Supporting Variantsnssv14434217
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)nsv3281872
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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