A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242062



Internal ID22375155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:118950695..118950775hg38UCSC Ensembl
chr4:119871850..119871930hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14456571
SamplesHG00733
Known GenesSYNPO2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsDeletion variant involving MER satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242062
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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