A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3171317



Internal ID22331221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19668646..19669008hg38UCSC Ensembl
chr17:19571959..19572321hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14431935, nssv14454494
SamplesHG00733, HG00514
Known GenesALDH3A2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3171317
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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