A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14387582



Internal ID22318716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:39894058..39894058hg38UCSC Ensembl
chr15:40186259..40186259hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558764
Supporting Variants
SamplesNA19240
Known GenesGPR176
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14387582
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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