A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285701



Internal ID22384080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66392657..66395118hg38UCSC Ensembl
chr7:65857644..65860105hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg382462
hg192462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8566n152
Supporting Variantsnssv14437637, nssv14374862
SamplesNA19240, HG00514
Known GenesLINC00174
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3285701
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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