A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3544255



Internal ID22413295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:87492121..87492121hg38UCSC Ensembl
chr13:88144376..88144376hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14417045, nssv14378358, nssv14443737
SamplesNA19240, HG00733, HG00514
Known GenesMIR4500HG
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)nsv3544255
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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