A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14432867



Internal ID22175758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39357600..39357662hg38UCSC Ensembl
chr22:39753605..39753667hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239715
Supporting Variants
SamplesHG00514
Known GenesSYNGR1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsDeletion variant involving LTR satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14432867
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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