A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394668



Internal ID22299003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230937443..230937662hg38UCSC Ensembl
chr2:231802158..231802377hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245541
Supporting Variants
SamplesNA19240
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)nssv14394668
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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