A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3277503



Internal ID22377856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42227963..42228417hg38UCSC Ensembl
chr12:42621765..42622219hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1821n152
Supporting Variantsnssv14395347
SamplesNA19240
Known GenesYAF2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3277503
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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