A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3175074



Internal ID22333161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88736210..88736540hg38UCSC Ensembl
chr5:88032027..88032357hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7431n152
Supporting Variantsnssv14456036
SamplesHG00733
Known GenesMEF2C
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)nsv3175074
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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