A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280242



Internal ID22378553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68242187..68242411hg38UCSC Ensembl
chr4:69107905..69108129hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6672n152
Supporting Variantsnssv14411571
SamplesNA19240
Known GenesTMPRSS11B
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)nsv3280242
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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