A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14416059



Internal ID22151668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30158145..30158237hg38UCSC Ensembl
chr12:30311078..30311170hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240031
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion variant involving LTR satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14416059
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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