A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242336



Internal ID22375244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39590982..39591064hg38UCSC Ensembl
chr7:39630581..39630663hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14435868
SamplesHG00514
Known GenesYAE1D1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242336
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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