A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3277513



Internal ID22377858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:60366814..60366944hg38UCSC Ensembl
chr15:60659013..60659143hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2947n152
Supporting Variantsnssv14430468
SamplesHG00514
Known GenesANXA2
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)nsv3277513
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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