A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3538786



Internal ID22407961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36948673..36948673hg38UCSC Ensembl
chr6:36916449..36916449hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426434, nssv14459348
SamplesHG00733, HG00514
Known GenesPI16
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)nsv3538786
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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