A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236488



Internal ID22373592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31332571..31332920hg38UCSC Ensembl
chr17:29659589..29659938hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3528n152
Supporting Variantsnssv14431973, nssv14455737, nssv14406717
SamplesNA19240, HG00733, HG00514
Known GenesNF1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1HS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236488
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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