A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14454494



Internal ID22249078
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 StatusS
Merged Variantsnsv3171317
Supporting Variants
SamplesHG00733
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)nssv14454494
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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