A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14409346



Internal ID22315514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50252551..50259350hg38UCSC Ensembl
chr3:50289983..50296782hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg386800
hg196800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208193
Supporting Variants
SamplesNA19240
Known GenesGNAI2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14409346
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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