A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14379586



Internal ID22328427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:92630862..92630862hg38UCSC Ensembl
chr15:93174092..93174092hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3552710
Supporting Variants
SamplesNA19240
Known GenesFAM174B
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)nssv14379586
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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