A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540248



Internal ID22409394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:35699600..35699600hg38UCSC Ensembl
chr5:35699702..35699702hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg382642
hg192642
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14425611, nssv14463995
SamplesHG00733, HG00514
Known GenesSPEF2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3540248
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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