A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3171519



Internal ID22331335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150516697..150518807hg38UCSC Ensembl
chr5:149896259..149898369hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg382111
hg192111
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14456043
SamplesHG00733
Known GenesNDST1
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)nsv3171519
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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