A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231722



Internal ID22372313
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 StatusM
Merged Variantsdgv3561n152
Supporting Variantsnssv14419514, nssv14446789
SamplesHG00733, HG00514
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)nsv3231722
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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