A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543974



Internal ID22413020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112988830..112988830hg38UCSC Ensembl
chr13:113643144..113643144hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14443181
SamplesHG00733
Known GenesMCF2L
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)nsv3543974
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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