A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14418572



Internal ID22155287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2304295..2304295hg38UCSC Ensembl
chr17:2207589..2207589hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521235
Supporting Variants
SamplesHG00514
Known GenesSRR
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14418572
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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