A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547162



Internal ID22416140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:62688692..62688692hg38UCSC Ensembl
chr13:63262825..63262825hg19UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14444414
SamplesHG00733
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)nsv3547162
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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