A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14456571



Internal ID22250797
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 StatusS
Merged Variantsnsv3242062
Supporting Variants
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)nssv14456571
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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