A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548678



Internal ID22417630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:15149439..15149439hg38UCSC Ensembl
chr10:15191438..15191438hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14388568, nssv14414944, nssv14441514
SamplesNA19240, HG00733, HG00514
Known GenesNMT2
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)nsv3548678
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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