A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285696



Internal ID22384075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53173073..53173137hg38UCSC Ensembl
chr6:53037871..53037935hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7902n152
Supporting Variantsnssv14412294, nssv14457832, nssv14435693
SamplesNA19240, HG00733, HG00514
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)nsv3285696
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer