A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3177053



Internal ID22334217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150366629..150366955hg38UCSC Ensembl
chr5:149746192..149746518hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7564n152
Supporting Variantsnssv14436866, nssv14410909
SamplesNA19240, HG00514
Known GenesTCOF1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3177053
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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