A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220392



Internal ID22365096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30637990..30640952hg38UCSC Ensembl
chr13:31212127..31215089hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg382963
hg192963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14367983, nssv14367984
SamplesNA19239, NA19240
Known GenesUSPL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220392
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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