A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14446789



Internal ID22242467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41144157..41145082hg38UCSC Ensembl
chr17:39300409..39301334hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38926
hg19926
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231722
Supporting Variants
SamplesHG00733
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)nssv14446789
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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