A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548527



Internal ID22417480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:66348064..66348064hg38UCSC Ensembl
chr9:42173695..42173695hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14460300, nssv14404151
SamplesNA19240, HG00733
Known Genes
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)nsv3548527
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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